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

  • See Evidence submitted by expert panel for details.

Variant: NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)

CA239802

160091 (ClinVar)

Gene: TCF4
Condition: Pitt-Hopkins syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 644b4eae-91ea-4cc2-ae5a-abc981bf920f
Approved on: 2021-03-26
Published on: 2021-05-17

HGVS expressions

NM_001083962.2:c.944C>T
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)
ENST00000354452.8:c.944C>T
ENST00000630720.3:c.464C>T
ENST00000635822.2:c.944C>T
ENST00000635990.2:n.624C>T
ENST00000636400.2:c.872C>T
ENST00000636751.2:c.*652C>T
ENST00000636822.2:c.554C>T
ENST00000637115.2:c.*834C>T
ENST00000637169.2:c.296C>T
ENST00000637239.2:n.1011C>T
ENST00000637250.2:n.638C>T
ENST00000637923.2:n.542C>T
ENST00000638154.3:c.974C>T
ENST00000643689.1:c.554C>T
ENST00000674764.1:c.*555C>T
ENST00000675707.1:c.554C>T
ENST00000354452.7:c.944C>T
ENST00000356073.8:c.944C>T
ENST00000398339.5:c.1250C>T
ENST00000457482.7:c.464C>T
ENST00000537578.5:c.872C>T
ENST00000537856.7:c.554C>T
ENST00000540999.5:c.872C>T
ENST00000543082.5:c.818C>T
ENST00000544241.6:c.731C>T
ENST00000561831.7:c.464C>T
ENST00000561992.5:c.554C>T
ENST00000562680.5:n.1035C>T
ENST00000563760.5:n.536C>T
ENST00000564228.5:n.731C>T
ENST00000564403.6:c.962C>T
ENST00000564999.5:c.944C>T
ENST00000565018.6:c.692C>T
ENST00000566279.5:c.764C>T
ENST00000566286.5:n.938C>T
ENST00000567880.5:n.764C>T
ENST00000568673.5:c.872C>T
ENST00000568740.5:c.869C>T
ENST00000570146.3:n.208C>T
ENST00000570177.6:c.554C>T
ENST00000570287.6:c.464C>T
ENST00000616053.4:c.692C>T
ENST00000626584.2:c.296C>T
ENST00000627136.2:n.545C>T
ENST00000628078.2:c.554C>T
ENST00000628360.1:n.41C>T
ENST00000628636.2:c.554C>T
ENST00000628689.2:c.*87C>T
ENST00000629343.2:c.554C>T
ENST00000629387.2:c.944C>T
ENST00000630720.2:c.464C>T
NM_001083962.1:c.944C>T
NM_001243226.2:c.1250C>T
NM_001243227.1:c.872C>T
NM_001243228.1:c.962C>T
NM_001243230.1:c.938C>T
NM_001243231.1:c.818C>T
NM_001243232.1:c.731C>T
NM_001243233.1:c.554C>T
NM_001243234.1:c.464C>T
NM_001243235.1:c.464C>T
NM_001243236.1:c.464C>T
NM_001306207.1:c.872C>T
NM_001306208.1:c.731C>T
NM_003199.2:c.944C>T
NM_001330604.2:c.944C>T
NM_001330605.2:c.554C>T
NM_001348211.1:c.818C>T
NM_001348212.1:c.554C>T
NM_001348213.1:c.554C>T
NM_001348214.1:c.464C>T
NM_001348215.1:c.296C>T
NM_001348216.1:c.464C>T
NM_001348217.1:c.872C>T
NM_001348218.1:c.872C>T
NM_001348219.1:c.872C>T
NM_001348220.1:c.869C>T
NM_001243226.3:c.1250C>T
NM_001243227.2:c.872C>T
NM_001243228.2:c.962C>T
NM_001243231.2:c.818C>T
NM_001243233.2:c.554C>T
NM_001243234.2:c.464C>T
NM_001243235.2:c.464C>T
NM_001243236.2:c.464C>T
NM_001330604.3:c.944C>T
NM_001330605.3:c.554C>T
NM_001348211.2:c.818C>T
NM_001348212.2:c.554C>T
NM_001348213.2:c.554C>T
NM_001348214.2:c.464C>T
NM_001348215.2:c.296C>T
NM_001348216.2:c.464C>T
NM_001348218.2:c.872C>T
NM_001348219.2:c.872C>T
NM_001369567.1:c.944C>T
NM_001369568.1:c.944C>T
NM_001369569.1:c.941C>T
NM_001369570.1:c.941C>T
NM_001369571.1:c.944C>T
NM_001369572.1:c.944C>T
NM_001369573.1:c.941C>T
NM_001369574.1:c.944C>T
NM_001369575.1:c.872C>T
NM_001369576.1:c.869C>T
NM_001369577.1:c.872C>T
NM_001369578.1:c.869C>T
NM_001369579.1:c.872C>T
NM_001369580.1:c.872C>T
NM_001369581.1:c.869C>T
NM_001369582.1:c.872C>T
NM_001369583.1:c.872C>T
NM_001369584.1:c.869C>T
NM_001369585.1:c.869C>T
NM_001369586.1:c.872C>T
NM_003199.3:c.944C>T
NM_001243230.2:c.938C>T
NC_000018.10:g.55261512G>A
CM000680.2:g.55261512G>A
NC_000018.9:g.52928743G>A
CM000680.1:g.52928743G>A
NC_000018.8:g.51079741G>A
NG_011716.1:g.332118C>T
NG_011716.2:g.379482C>T
More

Benign

Met criteria codes 3
BS2 BP5 BA1

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 allele frequency of the p.Ala315Val variant in TCF4 is 0.1% 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.Ala315Val variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Ala315Val variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary, the p.Ala315Val variant in TCF4 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP5).
Met criteria codes
BS2
The p.Ala315Val variant is observed in at least 2 unaffected individuals (internal database)
BP5
The p.Ala315Val variant is found in a patient with an alternate molecular basis of disease (internal database)
BA1
The allele frequency of the p.Ala315Val variant in TCF4 is 0.1% 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.
Curation History
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