ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3932del (p.Asn1311fs)

dbSNP: rs80357504
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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) RCV000112212 SCV000300044 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV001383762 SCV001583022 pathogenic Hereditary breast ovarian cancer syndrome 2018-11-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with breast cancer (PMID: 8808710). This variant is also known as 4049delA in the literature. ClinVar contains an entry for this variant (Variation ID: 55055). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn1311Thrfs*7) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112212 SCV000144919 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing
Laboratory for Genotyping Development, RIKEN RCV003162412 SCV002758468 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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