ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.2127T>C (p.Asn709=) (rs113454484)

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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 RCV000241638 SCV000320589 likely benign Cardiovascular phenotype 2015-12-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000526592 SCV000627631 likely benign Long QT syndrome 2020-02-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586523 SCV000697730 benign not provided 2016-12-19 criteria provided, single submitter clinical testing Variant summary: The ANK2 c.2127T>C (p.Asn709Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 2/5 splice prediction tools predict that this variant may weaken a cryptic 5' splicing donor site, while 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SC35. However, these predictions have yet to be confirmed by functional studies. This variant was found in 8/120974 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0007703 (8/10386). This frequency is about 77 times the estimated maximal expected allele frequency of a pathogenic ANK2 variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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