ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) (rs276174918)

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Total submissions: 6
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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) RCV000077036 SCV000301366 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 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 RCV000077036 SCV000328082 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000190458 SCV000549576 pathogenic Hereditary breast and ovarian cancer syndrome 2017-01-30 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides and inserts 2 nucleotides in exon 24 of the BRCA2 mRNA (c.9252_9255delAACAinsTT), causing a frameshift at codon 3084. This creates a premature translational stop signal (p.Lys3084Asnfs*26) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This particular variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). This variant is also known as 9480del4insTT. For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077036 SCV000108833 pathogenic Breast-ovarian cancer, familial 2 2011-07-15 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077036 SCV000147580 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Curoverse RCV000190458 SCV000245335 pathogenic Hereditary breast and ovarian cancer syndrome 2015-08-01 no assertion criteria provided research Frameshifts in BRCA2 are considered pathogenic, and this is a BRCA2 Lys3084Asn frameshift variant in exon 24

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