17-43063913-GA-G

Variant names:

• chr17-43063913-GA-G
• rs397509228
• NM_007294.4:c.5112delT

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.5112delT​(p.Leu1705fs) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (★★★). Synonymous variant affecting the same amino acid position (i.e. F1704F) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.

• Frequency: Genomes: not found (cov: 32)
• Consequence: BRCA1 NM_007294.4 frameshift
• Clinical Significance: Pathogenic reviewed by expert panel P:3
• Conservation: PhyloP100: 0.901
• Publications: 8 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 17-43063913-GA-G is Pathogenic according to our data. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr17-43063913-GA-G is described in CliVar as Pathogenic. Clinvar id is 55404.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.5112delT	p.Leu1705fs	frameshift_variant	Exon 17 of 23	ENST00000357654.9	NP_009225.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA1	ENST00000357654.9	c.5112delT	p.Leu1705fs	frameshift_variant	Exon 17 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 32

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:3

Revision: reviewed by expert panel

Submissions by phenotype

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

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

Mar 14, 2025

Ambry Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The c.5112delT pathogenic mutation, located in coding exon 16 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5112, causing a translational frameshift with a predicted alternate stop codon (p.L1705*). This variant was identified in an individual diagnosed with breast cancer (Rodriguez RC et al. Fam. Cancer 2008; 7:275-9). 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

May 23, 2017

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.Leu1705*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 18286383). ClinVar contains an entry for this variant (Variation ID: 55404). This variant is also known as c.5231delT in the literature. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.90
Mutation Taster		=0/200	disease causing (ClinVar)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.020		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: rs397509228; hg19: chr17-41215930;