ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3774_3775del (p.Ile1258fs)

dbSNP: rs886038094
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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) RCV000241042 SCV000300663 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Counsyl RCV000241042 SCV000785632 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001385724 SCV001585686 pathogenic Hereditary breast ovarian cancer syndrome 2020-01-02 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 reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 254524). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1258Metfs*6) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002347946 SCV002620761 pathogenic Hereditary cancer-predisposing syndrome 2020-03-11 criteria provided, single submitter clinical testing The c.3774_3775delAA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 3774 to 3775, causing a translational frameshift with a predicted alternate stop codon (p.I1258Mfs*6). 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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