ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4212C>A (p.Ser1404=) (rs144655979)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000589752 SCV000166035 likely benign not provided 2019-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162838 SCV000213325 likely benign Hereditary cancer-predisposing syndrome 2014-09-25 criteria provided, single submitter clinical testing
Color RCV000162838 SCV000681656 likely benign Hereditary cancer-predisposing syndrome 2016-06-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589752 SCV000694045 benign not provided 2017-01-03 criteria provided, single submitter clinical testing Variant summary: The APC c.4212C>A (p.Ser1404Ser) variant causes a synonymous change involving a non-conserved nucleotide, 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest has been observed in the large, broad control population, ExAC, with an allele frequency of 11/121300 (1/11025), which exceeds the estimated maximal expected allele frequency for a pathogenic APC variant of 1/14005, therefore, suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Therefore, the variant of interest has been classified as Benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000581831 SCV000691746 likely benign not specified no assertion criteria provided clinical testing

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