ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1446_1448del (p.Ile483del) (rs80358327)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047478 SCV000075491 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-13 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 10 of the BRCA1 mRNA (c.1446_1448delTAT). This leads to the deletion of 1 amino acid residue in the BRCA1 protein (p.Ile483del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in the Breast Cancer Information Core database (PMID: 10923033). This variant is also known as p.Ile482del. ClinVar contains an entry for this variant (Variation ID: 54254). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this variant is a rare in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000510128 SCV000608223 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-16 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000510128 SCV000688338 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-06 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111619 SCV000144097 uncertain significance Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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