ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1760-12A>G

gnomAD frequency: 0.00001  dbSNP: rs774350590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499736 SCV001704507 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-02-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584906 SCV004356699 likely benign Hereditary cancer-predisposing syndrome 2019-03-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354312 SCV001548898 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The MSH2 c.1760-12A>G variant was not identified in the literature nor was it identified in the ClinVar or UMD-LSDB. The variant was identified in dbSNP (ID: rs774350590) as "NA". The variant was identified in control databases in 2 of 276256 chromosomes at a frequency of 0.000007 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 1 of 23988 chromosomes (freq: 0.000042), East Asian in 1 of 18834 chromosomes (freq: 0.000053), but not in the Other, Latino, European Non-Finnish, Ashkenazi Jewish, Finnish, and South Asian populations. The c.1760-12A>G variant is not highly conserved and is located in the 3' splice region but does not affect the invariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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