ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3554_3563del (p.Thr1185fs) (rs397507675)

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Total submissions: 3
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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) RCV000661439 SCV000783717 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000044221 SCV000072234 pathogenic Hereditary breast and ovarian cancer syndrome 2016-06-24 criteria provided, single submitter clinical testing This sequence change deletes 10 nucleotides from exon 11 of the BRCA2 mRNA (c.3554_3563del), causing a frameshift at codon 1185. This creates a premature translational stop signal (p.Thr1185Ilefs*9) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with breast cancer (PMID: 22085629). This variant is also known as c.3782del10. For these reasons, this variant has been classified as Pathogenic.
GeneKor MSA RCV000239304 SCV000296820 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing

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