ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2346T>A (p.Ser782Arg) (rs1555589837)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588839 SCV000698942 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.2346T>A (p.Ser782Arg) variant involves the alteration of a non-conserved nucleotide and lies outside of known domains in BRCA1 protein (RING, S-R and BRCT). 4/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 121364 control chromosomes from ExAC. This variant has been reported at least once from a study that offered hereditary cancer panel test to a cohort of 132 patients and was classified as VUS (Yorczyk_2015). Taken together, this variant is currently classified as Variant of Uncertain Significance.
PreventionGenetics,PreventionGenetics RCV000588839 SCV000806913 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing
Invitae RCV000693241 SCV000821101 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-09 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 782 of the BRCA1 protein (p.Ser782Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in at least one individual undergoing testing for breast cancer and/or Lynch syndrome (PMID: 25318351). ClinVar contains an entry for this variant (Variation ID: 496356). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV001185320 SCV001351508 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-16 criteria provided, single submitter clinical testing

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