Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_001083962.2(TCF4):c.504A>G (p.Val168=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA293878

139404 (ClinVar)

Gene: TCF4

Condition: Pitt-Hopkins syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: a7e99de5-02f7-4772-8727-96988307a984

Approved on: 2022-02-18

Published on: 2022-06-30

HGVS expressions

NM_001083962.2:c.504A>G

NM_001083962.2(TCF4):c.504A>G (p.Val168=)

NC_000018.10:g.55350404T>C

CM000680.2:g.55350404T>C

NC_000018.9:g.53017635T>C

CM000680.1:g.53017635T>C

NC_000018.8:g.51168633T>C

NG_011716.1:g.243226A>G

NG_011716.2:g.290590A>G

ENST00000354452.8:c.504A>G

ENST00000635822.2:c.504A>G

ENST00000635990.2:n.184A>G

ENST00000636400.2:c.432A>G

ENST00000636751.2:c.*212A>G

ENST00000636822.2:c.114A>G

ENST00000637115.2:c.*394A>G

ENST00000637239.2:n.571A>G

ENST00000637250.2:n.198A>G

ENST00000638154.3:c.534A>G

ENST00000643689.1:c.114A>G

ENST00000674764.1:c.*115A>G

ENST00000675707.1:c.114A>G

ENST00000354452.7:c.504A>G

ENST00000356073.8:c.504A>G

ENST00000398339.5:c.810A>G

ENST00000537578.5:c.432A>G

ENST00000537856.7:c.114A>G

ENST00000540999.5:c.432A>G

ENST00000543082.5:c.378A>G

ENST00000544241.6:c.291A>G

ENST00000561992.5:c.114A>G

ENST00000562030.3:c.114A>G

ENST00000562607.5:c.114A>G

ENST00000562638.5:c.114A>G

ENST00000562680.5:n.595A>G

ENST00000563686.5:n.359A>G

ENST00000563824.5:c.432A>G

ENST00000563888.6:c.429A>G

ENST00000564228.5:n.291A>G

ENST00000564403.6:c.504A>G

ENST00000564999.5:c.504A>G

ENST00000565018.6:c.297+53050A>G

ENST00000565580.3:n.298+53050A>G

ENST00000565908.6:c.432A>G

ENST00000566279.5:c.369+53050A>G

ENST00000566286.5:n.498A>G

ENST00000566376.3:n.184A>G

ENST00000566514.5:c.465A>G

ENST00000566777.5:c.114A>G

ENST00000567880.5:n.369+53050A>G

ENST00000568147.5:c.468A>G

ENST00000568169.5:c.516A>G

ENST00000568186.5:c.114A>G

ENST00000568673.5:c.432A>G

ENST00000568740.5:c.429A>G

ENST00000569012.5:c.114A>G

ENST00000570177.6:c.114A>G

ENST00000590810.5:c.150A>G

ENST00000616053.4:c.297+53050A>G

ENST00000625849.2:n.364A>G

ENST00000625925.2:c.114A>G

ENST00000626425.2:c.429A>G

ENST00000626584.2:c.-100+53050A>G

ENST00000626595.2:c.504A>G

ENST00000627136.2:n.478A>G

ENST00000627685.2:c.432A>G

ENST00000628078.2:c.114A>G

ENST00000628636.2:c.114A>G

ENST00000629343.2:c.114A>G

ENST00000629387.2:c.504A>G

ENST00000630268.2:c.114A>G

ENST00000630319.2:c.273A>G

ENST00000630712.2:c.114A>G

ENST00000630828.2:c.294A>G

ENST00000631043.2:n.303A>G

NM_001083962.1:c.504A>G

NM_001243226.2:c.810A>G

NM_001243227.1:c.432A>G

NM_001243228.1:c.504A>G

NM_001243230.1:c.498A>G

NM_001243231.1:c.378A>G

NM_001243232.1:c.291A>G

NM_001243233.1:c.114A>G

NM_001306207.1:c.432A>G

NM_001306208.1:c.291A>G

NM_003199.2:c.504A>G

NM_001330604.2:c.504A>G

NM_001330605.2:c.114A>G

NM_001348211.1:c.378A>G

NM_001348212.1:c.114A>G

NM_001348213.1:c.114A>G

NM_001348217.1:c.432A>G

NM_001348218.1:c.432A>G

NM_001348219.1:c.432A>G

NM_001348220.1:c.429A>G

NM_001243226.3:c.810A>G

NM_001243227.2:c.432A>G

NM_001243228.2:c.504A>G

NM_001243231.2:c.378A>G

NM_001243233.2:c.114A>G

NM_001330604.3:c.504A>G

NM_001330605.3:c.114A>G

NM_001348211.2:c.378A>G

NM_001348212.2:c.114A>G

NM_001348213.2:c.114A>G

NM_001348218.2:c.432A>G

NM_001348219.2:c.432A>G

NM_001369567.1:c.504A>G

NM_001369568.1:c.504A>G

NM_001369569.1:c.501A>G

NM_001369570.1:c.501A>G

NM_001369571.1:c.504A>G

NM_001369572.1:c.504A>G

NM_001369573.1:c.501A>G

NM_001369574.1:c.504A>G

NM_001369575.1:c.432A>G

NM_001369576.1:c.429A>G

NM_001369577.1:c.432A>G

NM_001369578.1:c.429A>G

NM_001369579.1:c.432A>G

NM_001369580.1:c.432A>G

NM_001369581.1:c.429A>G

NM_001369582.1:c.432A>G

NM_001369583.1:c.432A>G

NM_001369584.1:c.429A>G

NM_001369585.1:c.429A>G

NM_001369586.1:c.432A>G

NM_003199.3:c.504A>G

NM_001243230.2:c.498A>G

Benign

BS2_Supporting BA1

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The allele frequency of the p.Val168= variant in TCF4 is 0.057% in European (Non-Finnish) sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Val168= variant is observed in 1 unaffected individual (Baylor Genetics internal database) (BS2_supporting). In summary, p.Val168= variant in TCF4 is classified as benign based on the ACMG/AMP criteria (BA1, BS2_supporting).

BS2_Supporting

The p.Val168= variant is observed in 1 unaffected individual (Baylor Genetics internal database).

BA1

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.