ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.832+9A>G

dbSNP: rs1057521268
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179681 SCV001344391 likely benign Hereditary cancer-predisposing syndrome 2019-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001504253 SCV001709127 likely benign Hereditary diffuse gastric adenocarcinoma 2023-03-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001504253 SCV005406918 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-16 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357831 SCV001553418 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The CDH1 c.832+9A>G variant was not identified in the literature. The variant was identified in dbSNP (ID: rs1057521268) as "With Likely benign allele", and ClinVar (classified as likely benign by Invitae, GeneDx and two other submitters; as benign by one clinical laboratory). The variant was identified in control databases in 1 of 246070 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the Finnish in 1 of 22294 chromosomes (freq: 0.00005), while the variant was not observed in the African, Other, Latino, European, Ashkenazi Jewish, East Asian, and South Asian populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in 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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