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.242C>G (p.Thr81Ser)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA8970612

1791142 (ClinVar)

Gene: TCF4

Condition: Pitt-Hopkins syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 2fe2dbf3-0a7c-4606-b0c9-4aae9cffa24a

Approved on: 2024-06-25

Published on: 2024-08-23

HGVS expressions

NM_001083962.2:c.242C>G

NM_001083962.2(TCF4):c.242C>G (p.Thr81Ser)

NC_000018.10:g.55461081G>C

CM000680.2:g.55461081G>C

NC_000018.9:g.53128312G>C

CM000680.1:g.53128312G>C

NC_000018.8:g.51279310G>C

NG_011716.1:g.132549C>G

NG_011716.2:g.179913C>G

ENST00000354452.8:c.242C>G

ENST00000635822.2:c.242C>G

ENST00000636400.2:c.170C>G

ENST00000636751.2:c.170C>G

ENST00000637115.2:c.*132C>G

ENST00000637239.2:n.309C>G

ENST00000638154.3:c.272C>G

ENST00000674598.1:n.712C>G

ENST00000674764.1:c.116C>G

ENST00000354452.7:c.242C>G

ENST00000356073.8:c.242C>G

ENST00000398339.5:c.548C>G

ENST00000537578.5:c.170C>G

ENST00000540999.5:c.170C>G

ENST00000543082.5:c.116C>G

ENST00000562543.5:c.242C>G

ENST00000562847.5:c.5C>G

ENST00000563686.5:n.97C>G

ENST00000563824.5:c.170C>G

ENST00000563888.6:c.170C>G

ENST00000564343.5:c.170C>G

ENST00000564403.6:c.242C>G

ENST00000564999.5:c.242C>G

ENST00000565018.6:c.170C>G

ENST00000565580.3:n.171C>G

ENST00000565908.6:c.170C>G

ENST00000566279.5:c.242C>G

ENST00000566286.5:c.236C>G

ENST00000566514.5:c.203C>G

ENST00000567880.5:c.242C>G

ENST00000568147.5:c.206C>G

ENST00000568169.5:c.254C>G

ENST00000568673.5:c.170C>G

ENST00000568740.5:c.170C>G

ENST00000569357.4:c.451C>G

ENST00000616053.4:c.170C>G

ENST00000625716.2:n.172C>G

ENST00000626425.2:c.170C>G

ENST00000626595.2:c.242C>G

ENST00000627136.2:n.216C>G

ENST00000627320.2:c.*172C>G

ENST00000627685.2:c.170C>G

ENST00000627784.2:c.242C>G

ENST00000629387.2:c.242C>G

ENST00000630319.2:c.74-57563C>G

NM_001083962.1:c.242C>G

NM_001243226.2:c.548C>G

NM_001243227.1:c.170C>G

NM_001243228.1:c.242C>G

NM_001243230.1:c.236C>G

NM_001243231.1:c.116C>G

NM_001306207.1:c.170C>G

NM_003199.2:c.242C>G

NR_132985.1:n.178+8371G>C

NM_001330604.2:c.242C>G

NM_001348211.1:c.116C>G

NM_001348217.1:c.170C>G

NM_001348218.1:c.170C>G

NM_001348219.1:c.170C>G

NM_001348220.1:c.170C>G

NM_001243226.3:c.548C>G

NM_001243227.2:c.170C>G

NM_001243228.2:c.242C>G

NM_001243231.2:c.116C>G

NM_001330604.3:c.242C>G

NM_001348211.2:c.116C>G

NM_001348218.2:c.170C>G

NM_001348219.2:c.170C>G

NM_001369567.1:c.242C>G

NM_001369568.1:c.242C>G

NM_001369569.1:c.242C>G

NM_001369570.1:c.242C>G

NM_001369571.1:c.242C>G

NM_001369572.1:c.242C>G

NM_001369573.1:c.242C>G

NM_001369574.1:c.242C>G

NM_001369575.1:c.170C>G

NM_001369576.1:c.170C>G

NM_001369577.1:c.170C>G

NM_001369578.1:c.170C>G

NM_001369579.1:c.170C>G

NM_001369580.1:c.170C>G

NM_001369581.1:c.170C>G

NM_001369582.1:c.170C>G

NM_001369583.1:c.170C>G

NM_001369584.1:c.170C>G

NM_001369585.1:c.170C>G

NM_001369586.1:c.170C>G

NM_003199.3:c.242C>G

NM_001243230.2:c.236C>G

Uncertain Significance

BP4

PM2 BS1 PS4

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 3.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The highest population minor allele frequency of the p.Thr81Ser variant in TCF4 in gnomAD v4.1 is 0.000027 in the African population (not sufficient to meet BS1 criteria). Computational analysis prediction tools suggest that the p.Thr81Ser variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Thr81Ser variant in TCF4 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (BP4).

BP4

Computational analysis prediction tools suggest that the p.Thr81Ser variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).

PM2

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS1

The highest population minor allele frequency of the p.Thr81Ser variant in TCF4 in gnomAD v4.1 is 0.000027 in the African population (not sufficient to meet BS1 criteria).

PS4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

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