17-43092098-C-T

Variant names:

• chr17-43092098-C-T
• rs431825396
• NM_007294.4:c.3433G>A

Variant summary

Our verdict is Likely benign. The variant received -1 ACMG points: 2P and 3B. PM2 BP4_Moderate BP6

The NM_007294.4(BRCA1):​c.3433G>A​(p.Val1145Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,694 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1145F) has been classified as Uncertain significance.

• Frequency:
  • Genomes: not found (cov: 32)
  • Exomes 𝑓: 0.0000021 (0 hom.)
• Consequence: BRCA1 NM_007294.4 missense
• Clinical Significance: Conflicting classifications of pathogenicity criteria provided, conflicting classifications U:1 B:1
• Conservation: PhyloP100: -1.46
• 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: Likely_benign. The variant received -1 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.1120823).
• BP6: Variant 17-43092098-C-T is Benign according to our data. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062. Variant chr17-43092098-C-T is described in CliVar as Conflicting_classifications_of_pathogenicity. Clinvar id is 491062.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA1	NM_007294.4	c.3433G>A	p.Val1145Ile	missense_variant	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.3433G>A	p.Val1145Ile	missense_variant	Exon 10 of 23	1	NM_007294.4	ENSP00000350283.3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome AF: 0.00000205 AC: 3 AN: 1461694 Hom.: 0 Cov.: 39 AF XY: 0.00 AC XY: 0 AN XY: 727162

African (AFR) AF: 0.00 AC: 0 AN: 33478

American (AMR) AF: 0.00 AC: 0 AN: 44724

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 26134

East Asian (EAS) AF: 0.0000504 AC: 2 AN: 39698

South Asian (SAS) AF: 0.00 AC: 0 AN: 86250

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 53268

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

European-Non Finnish (NFE) AF: 8.99e-7 AC: 1 AN: 1111978

Other (OTH) AF: 0.00 AC: 0 AN: 60396

GnomAD4 genome Cov.: 32

ClinVar

Significance: Conflicting classifications of pathogenicity

Submissions summary: Uncertain:1 Benign:1

Revision: criteria provided, conflicting classifications

Submissions by phenotype

Hereditary cancer-predisposing syndrome Uncertain:1 Benign:1

Mar 23, 2023

University of Washington Department of Laboratory Medicine, University of Washington

Significance: Likely benign

Review Status: criteria provided, single submitter

Collection Method: curation

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). -

Apr 05, 2019

Color Diagnostics, LLC DBA Color Health

Significance: Uncertain significance

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.079
BayesDel_addAF	Benign	-0.015	T
BayesDel_noAF	Benign	-0.26
CADD	Benign	0.41
DANN	Benign	0.70
DEOGEN2	Benign	0.14	T;.;.;.
Eigen	Benign	-0.85
Eigen_PC	Benign	-0.77
FATHMM_MKL	Benign	0.072	N
LIST_S2	Benign	0.85	D;D;D;D
M_CAP	Benign	0.042	D
MetaRNN	Benign	0.11	T;T;T;T
MetaSVM	Benign	-0.95	T
MutationAssessor	Benign	0.96	L;L;.;.
PhyloP100		-1.5
PrimateAI	Benign	0.29	T
PROVEAN	Benign	-0.45	N;N;N;N
REVEL	Uncertain	0.33
Sift	Benign	0.38	T;T;T;T
Sift4G	Benign	0.44	T;T;T;T
Polyphen		0.36	B;.;.;B
Vest4		0.34
MutPred		0.34		Gain of sheet (P = 0.1208);Gain of sheet (P = 0.1208);.;Gain of sheet (P = 0.1208);
MVP		0.25
MPC		0.088
ClinPred		0.025	T
GERP RS		0.42
PromoterAI		-0.0050	Neutral
Varity_R		0.014
gMVP		0.028
Mutation Taster		=80/20	polymorphism

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.050		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: rs431825396; hg19: chr17-41244115;