Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No Criteria Specification was provided in the publication event for the variant classifaction.
  • The Criteria Specification shown below is a best-estimate based on the VCEP, gene, disease, and publication date.

Variant: NM_001348220.1:c.1411G>T

CA402531414

690393 (ClinVar)

Gene: TCF4 (HGNC:6925)
Condition: Pitt-Hopkins syndrome (MONDO:0012589)
Inheritance Mode: Autosomal dominant inheritance
UUID: 0a189478-9ece-44c0-87b9-f803923296b4
Approved on: 2021-05-11
Published on: 2021-05-17

HGVS expressions

NM_001348220.1:c.1411G>T
ENST00000354452.8:c.1486G>T
ENST00000635822.2:c.1486G>T
ENST00000635990.2:n.1166G>T
ENST00000636400.2:c.1414G>T
ENST00000636751.2:c.*1194G>T
ENST00000636822.2:c.1096G>T
ENST00000637115.2:c.*1376G>T
ENST00000637169.2:c.838G>T
ENST00000637239.2:n.1553G>T
ENST00000637250.2:n.1180G>T
ENST00000637923.2:n.1084G>T
ENST00000638154.3:c.1513G>T
ENST00000643689.1:c.1096G>T
ENST00000674764.1:c.*1097G>T
ENST00000675707.1:c.1096G>T
ENST00000354452.7:c.1486G>T
ENST00000356073.8:c.1486G>T
ENST00000398339.5:c.1792G>T
ENST00000457482.7:c.1006G>T
ENST00000537578.5:c.1414G>T
ENST00000537856.7:c.1096G>T
ENST00000540999.5:c.1414G>T
ENST00000543082.5:c.1360G>T
ENST00000544241.6:c.1273G>T
ENST00000561831.7:c.1006G>T
ENST00000561992.5:c.1096G>T
ENST00000562680.5:n.1577G>T
ENST00000564228.5:n.1273G>T
ENST00000564403.6:c.1504G>T
ENST00000564999.5:c.1486G>T
ENST00000565018.6:c.1234G>T
ENST00000566279.5:c.1306G>T
ENST00000566286.5:n.1477G>T
ENST00000567880.5:n.1306G>T
ENST00000568673.5:c.1414G>T
ENST00000568740.5:c.1411G>T
ENST00000570177.6:c.1096G>T
ENST00000570287.6:c.1006G>T
ENST00000616053.4:c.1234G>T
ENST00000626466.1:n.521G>T
ENST00000626584.2:c.838G>T
ENST00000629387.2:c.1486G>T
NM_001083962.1:c.1486G>T
NM_001243226.2:c.1792G>T
NM_001243227.1:c.1414G>T
NM_001243228.1:c.1504G>T
NM_001243230.1:c.1477G>T
NM_001243231.1:c.1360G>T
NM_001243232.1:c.1273G>T
NM_001243233.1:c.1096G>T
NM_001243234.1:c.1006G>T
NM_001243235.1:c.1006G>T
NM_001243236.1:c.1006G>T
NM_001306207.1:c.1414G>T
NM_001306208.1:c.1273G>T
NM_003199.2:c.1486G>T
NM_001330604.2:c.1483G>T
NM_001330605.2:c.1096G>T
NM_001348211.1:c.1360G>T
NM_001348212.1:c.1096G>T
NM_001348213.1:c.1096G>T
NM_001348214.1:c.1003G>T
NM_001348215.1:c.838G>T
NM_001348216.1:c.1006G>T
NM_001348217.1:c.1414G>T
NM_001348218.1:c.1414G>T
NM_001348219.1:c.1414G>T
NM_001083962.2:c.1486G>T
NM_001243226.3:c.1792G>T
NM_001243227.2:c.1414G>T
NM_001243228.2:c.1504G>T
NM_001243231.2:c.1360G>T
NM_001243233.2:c.1096G>T
NM_001243234.2:c.1006G>T
NM_001243235.2:c.1006G>T
NM_001243236.2:c.1006G>T
NM_001330604.3:c.1483G>T
NM_001330605.3:c.1096G>T
NM_001348211.2:c.1360G>T
NM_001348212.2:c.1096G>T
NM_001348213.2:c.1096G>T
NM_001348214.2:c.1003G>T
NM_001348215.2:c.838G>T
NM_001348216.2:c.1006G>T
NM_001348218.2:c.1414G>T
NM_001348219.2:c.1414G>T
NM_001369567.1:c.1486G>T
NM_001369568.1:c.1486G>T
NM_001369569.1:c.1483G>T
NM_001369570.1:c.1483G>T
NM_001369571.1:c.1486G>T
NM_001369572.1:c.1486G>T
NM_001369573.1:c.1483G>T
NM_001369574.1:c.1483G>T
NM_001369575.1:c.1414G>T
NM_001369576.1:c.1411G>T
NM_001369577.1:c.1411G>T
NM_001369578.1:c.1411G>T
NM_001369579.1:c.1411G>T
NM_001369580.1:c.1411G>T
NM_001369581.1:c.1411G>T
NM_001369582.1:c.1414G>T
NM_001369583.1:c.1414G>T
NM_001369584.1:c.1411G>T
NM_001369585.1:c.1411G>T
NM_001369586.1:c.1417G>T
NM_003199.3:c.1486G>T
NM_001243230.2:c.1477G>T
NC_000018.10:g.55234548C>A
CM000680.2:g.55234548C>A
NC_000018.9:g.52901779C>A
CM000680.1:g.52901779C>A
NC_000018.8:g.51052777C>A
NG_011716.1:g.359082G>T
NG_011716.2:g.406446G>T
More

Likely Pathogenic

Met criteria codes 3
PS2 PP3 PM2_Supporting

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The p.Gly496Cys variant in TCF4 occurs in the confirmed de novo state in an individual with a neurodevelopmental disorder consistent with TCF4 abnormality (PS2). The p.Gly496Cys variant in TCF4 is absent from gnomAD (PM2_supporting). This variant occurs at the last amino acid residue in exon 16 and is predicted to affect the canonical splice donor site in intron 16 by several splice prediction programs. In summary, the p.Gly496Cys variant in TCF4 is classified as Likely Pathogenic based on the ACMG/AMP criteria (PS2, PM2_supporting, PP3).
Met criteria codes
PS2
The p.Gly496Cys variant in TCF4 occurs in the confirmed de novo state in an individual with a neurodevelopmental disorder consistent with TCF4 abnormality
PP3
This variant occurs at the last amino acid residue in exon 16 and is predicted to affect the canonical splice donor site in intron 16 by several splice prediction programs.
PM2_Supporting
The p.Gly496Cys variant in TCF4 is absent from gnomAD.
Curation History
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