ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter)

dbSNP: rs1064795652
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Total submissions: 5
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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) RCV000661851 SCV000784176 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000487145 SCV000571655 pathogenic not provided 2016-09-15 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5110A>T at the cDNA level and p.Arg1704Ter (R1704X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (AGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001382436 SCV001581207 pathogenic Hereditary breast ovarian cancer syndrome 2024-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1704*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 30322717). ClinVar contains an entry for this variant (Variation ID: 422242). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002350070 SCV002645539 pathogenic Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing The p.R1704* pathogenic mutation (also known as c.5110A>T), located in coding exon 10 of the BRCA2 gene, results from an A to T substitution at nucleotide position 5110. This changes the amino acid from an arginine to a stop codon within coding exon 10. This variant was identified in a cohort of 4439 women with ovarian cancer undergoing multigene panel testing at one laboratory (Carter NJ et al. Gynecol Oncol, 2018 12;151:481-488). In addition to the clinical data presented in the literature, 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.
Revvity Omics, Revvity RCV000487145 SCV003821052 likely pathogenic not provided 2022-02-08 criteria provided, single submitter clinical testing

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