17-43091443-G-C

Variant names:

• chr17-43091443-G-C
• rs398122680
• NM_007294.4:c.4088C>G

Variant summary

Our verdict is Pathogenic. The variant received 18 ACMG points: 18P and 0B. PVS1 PM2 PP5_Very_Strong

The NM_007294.4(BRCA1):​c.4088C>G​(p.Ser1363*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,562 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★★★). Synonymous variant affecting the same amino acid position (i.e. S1363S) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.

• Frequency:
  • Genomes: not found (cov: 32)
  • Exomes 𝑓: 6.8e-7 (0 hom.)
• Consequence: BRCA1 NM_007294.4 stop_gained
• Clinical Significance: Pathogenic reviewed by expert panel P:8
• Conservation: PhyloP100: 3.28
• Publications: 12 publications found

Genes affected

BRCA1 (HGNC:1100): (BRCA1 DNA repair associated) This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]

BRCA1 Gene-Disease associations (from GenCC):

• breast-ovarian cancer, familial, susceptibility to, 1

  Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Ambry Genetics, ClinGen, Labcorp Genetics (formerly Invitae), Genomics England PanelApp
• Fanconi anemia, complementation group S

  Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE, LIMITED Submitted by: G2P, Labcorp Genetics (formerly Invitae), ClinGen, Ambry Genetics
• pancreatic cancer, susceptibility to, 4

  Inheritance: AD Classification: MODERATE Submitted by: Genomics England PanelApp
• hereditary breast ovarian cancer syndrome

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• Fanconi anemia

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Pathogenic. The variant received 18 ACMG points.

• PVS1: Loss of function variant, product undergoes nonsense mediated mRNA decay. LoF is a known mechanism of disease.
• PM2: Very rare variant in population databases, with high coverage
• PP5: Variant 17-43091443-G-C is Pathogenic according to our data. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43091443-G-C is described in CliVar as Pathogenic. Clinvar id is 254452.Status of the report is reviewed_by_expert_panel, 3 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA1	NM_007294.4	c.4088C>G	p.Ser1363*	stop_gained	Exon 10 of 23	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.4088C>G	p.Ser1363*	stop_gained	Exon 10 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD2 exomes AF: 0.00000399 AC: 1 AN: 250858 AF XY: 0.00000737

Gnomad AFR exome AF: 0.0000616

Gnomad AMR exome AF: 0.00

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.00

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.00

Gnomad OTH exome AF: 0.00

GnomAD4 exome AF: 6.84e-7 AC: 1 AN: 1461562 Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1 AN XY: 727040

African (AFR) AF: 0.0000299 AC: 1 AN: 33446

American (AMR) AF: 0.00 AC: 0 AN: 44658

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 26128

East Asian (EAS) AF: 0.00 AC: 0 AN: 39690

South Asian (SAS) AF: 0.00 AC: 0 AN: 86158

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 53404

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5768

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 1111942

Other (OTH) AF: 0.00 AC: 0 AN: 60368

GnomAD4 genome Cov.: 32

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:8

Revision: reviewed by expert panel

Submissions by phenotype

not provided Pathogenic:4

Aug 07, 2018

GeneDx

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is denoted BRCA1 c.4088C>G at the cDNA level and p.Ser1363Ter (S1363X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been observed in at least two patients undergoing genetic testing for hereditary breast and/or ovarian cancer (Caux-Moncoutier 2009, Michils 2012) and is considered pathogenic. -

Apr 13, 2018

Quest Diagnostics Nichols Institute San Juan Capistrano

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Mar 04, 2025

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Oct 20, 2022

Mayo Clinic Laboratories, Mayo Clinic

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

PP5, PM2, PVS1 -

Breast-ovarian cancer, familial, susceptibility to, 1 Pathogenic:2

Oct 02, 2015

Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Sep 08, 2016

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

Significance: Pathogenic

Review Status: reviewed by expert panel

Collection Method: curation

Variant allele predicted to encode a truncated non-functional protein. -

Hereditary cancer-predisposing syndrome Pathogenic:1

Nov 02, 2023

Ambry Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The p.S1363* pathogenic mutation (also known as c.4088C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4088. This changes the amino acid from a serine to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. -

Hereditary breast ovarian cancer syndrome Pathogenic:1

Sep 17, 2024

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This sequence change creates a premature translational stop signal (p.Ser1363*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 29446198). ClinVar contains an entry for this variant (Variation ID: 254452). For these reasons, this variant has been classified as Pathogenic. -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_addAF	Pathogenic	0.34	D
BayesDel_noAF	Pathogenic	0.44
CADD	Pathogenic	37
DANN	Uncertain	1.0
Eigen	Pathogenic	0.95
Eigen_PC	Pathogenic	0.76
FATHMM_MKL	Uncertain	0.90	D
PhyloP100		3.3
Vest4		0.86
ClinPred		0.99	D
GERP RS		5.3
PromoterAI		0.0092	Neutral
Mutation Taster		=0/200	disease causing (ClinVar)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.11		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs398122680; hg19: chr17-41243460;