ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4609_4610insCC (p.Gln1537fs)

dbSNP: rs886038035
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Total submissions: 2
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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) RCV000241347 SCV000300143 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 RCV000688809 SCV000816433 pathogenic Hereditary breast ovarian cancer syndrome 2018-06-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1537Profs*12) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 254456). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

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