ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter)

dbSNP: rs1057517636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411097 SCV000489699 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850980 SCV002243594 pathogenic Hereditary breast ovarian cancer syndrome 2023-05-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 372066). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer. (PMID: 28294317, 30702160). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1492*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Ambry Genetics RCV002328899 SCV002636688 pathogenic Hereditary cancer-predisposing syndrome 2017-09-27 criteria provided, single submitter clinical testing The p.K1492* pathogenic mutation (also known as c.4474A>T), located in coding exon 10 of the BRCA2 gene, results from an A to T substitution at nucleotide position 4474. This changes the amino acid from a lysine to a stop codon within coding exon 10. 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.

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