ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4903_4904del (p.Leu1635fs)

dbSNP: rs80359471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205681 SCV001376950 pathogenic Hereditary breast ovarian cancer syndrome 2022-10-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 936802). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 30287823). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1635Glufs*3) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Ambry Genetics RCV002339521 SCV002636895 pathogenic Hereditary cancer-predisposing syndrome 2018-11-08 criteria provided, single submitter clinical testing The c.4903_4904delTT pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 4903 to 4904, causing a translational frameshift with a predicted alternate stop codon (p.L1635Efs*3). 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.
Laboratory for Genotyping Development, RIKEN RCV003163561 SCV002758428 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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