ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9247A>T (p.Lys3083Ter)

dbSNP: rs80359190
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000256545 SCV000324751 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256545 SCV000328081 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019066 SCV001180375 pathogenic Hereditary cancer-predisposing syndrome 2018-04-17 criteria provided, single submitter clinical testing The p.K3083* pathogenic mutation (also known as c.9247A>T), located in coding exon 23 of the BRCA2 gene, results from an A to T substitution at nucleotide position 9247. This changes the amino acid from a lysine to a stop codon within coding exon 23. Same protein change has been reported in a Spanish breast cancer kindred (Duran M et al. Hum Mutat. 2003 Apr;21(4):448). In addition to the clinical data presented in the literature, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001380998 SCV001579246 pathogenic Hereditary breast ovarian cancer syndrome 2020-02-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has been observed in individual(s) with breast or ovarian cancer (PMID: 29446198). ClinVar contains an entry for this variant (Variation ID: 52783). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys3083*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.

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