ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.263C>T (p.Thr88Ile)

dbSNP: rs876659356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215487 SCV000275728 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-05 criteria provided, single submitter clinical testing The p.T88I variant (also known as c.263C>T), located in coding exon 3 of the BARD1 gene, results from a C to T substitution at nucleotide position 263. The threonine at codon 88 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000801282 SCV000941053 uncertain significance Familial cancer of breast 2021-12-09 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 231778). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 88 of the BARD1 protein (p.Thr88Ile).
Baylor Genetics RCV000801282 SCV004214976 uncertain significance Familial cancer of breast 2023-10-03 criteria provided, single submitter clinical testing

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