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]
  • See Evidence submitted by expert panel for details.

Variant: NM_001083962.1(TCF4):c.1283G>T (p.Gly428Val)

CA300814398

574403 (ClinVar)

Gene: TCF4
Condition: Pitt-Hopkins syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 10d8e8a7-ab23-4642-8e12-8f34edafb761
Approved on: 2021-03-26
Published on: 2021-05-17

HGVS expressions

NM_001083962.1:c.1283G>T
NM_001083962.1(TCF4):c.1283G>T (p.Gly428Val)
ENST00000354452.8:c.1283G>T
ENST00000630720.3:c.800G>T
ENST00000635822.2:c.1283G>T
ENST00000635990.2:n.963G>T
ENST00000636400.2:c.1211G>T
ENST00000636751.2:c.*991G>T
ENST00000636822.2:c.893G>T
ENST00000637115.2:c.*1173G>T
ENST00000637169.2:c.635G>T
ENST00000637239.2:n.1350G>T
ENST00000637250.2:n.977G>T
ENST00000637923.2:n.881G>T
ENST00000638154.3:c.1310G>T
ENST00000643689.1:c.893G>T
ENST00000674764.1:c.*894G>T
ENST00000675707.1:c.893G>T
ENST00000354452.7:c.1283G>T
ENST00000356073.8:c.1283G>T
ENST00000398339.5:c.1589G>T
ENST00000457482.7:c.803G>T
ENST00000537578.5:c.1211G>T
ENST00000537856.7:c.893G>T
ENST00000540999.5:c.1211G>T
ENST00000543082.5:c.1157G>T
ENST00000544241.6:c.1070G>T
ENST00000561831.7:c.803G>T
ENST00000561992.5:c.893G>T
ENST00000562680.5:n.1374G>T
ENST00000563760.5:n.796G>T
ENST00000564228.5:n.1070G>T
ENST00000564403.6:c.1301G>T
ENST00000564999.5:c.1283G>T
ENST00000565018.6:c.1031G>T
ENST00000566279.5:c.1103G>T
ENST00000566286.5:n.1274G>T
ENST00000567880.5:n.1103G>T
ENST00000568673.5:c.1211G>T
ENST00000568740.5:c.1208G>T
ENST00000570177.6:c.893G>T
ENST00000570287.6:c.803G>T
ENST00000616053.4:c.1031G>T
ENST00000626466.1:n.318G>T
ENST00000626584.2:c.635G>T
ENST00000629387.2:c.1283G>T
ENST00000630720.2:c.800G>T
NM_001243226.2:c.1589G>T
NM_001243227.1:c.1211G>T
NM_001243228.1:c.1301G>T
NM_001243230.1:c.1274G>T
NM_001243231.1:c.1157G>T
NM_001243232.1:c.1070G>T
NM_001243233.1:c.893G>T
NM_001243234.1:c.803G>T
NM_001243235.1:c.803G>T
NM_001243236.1:c.803G>T
NM_001306207.1:c.1211G>T
NM_001306208.1:c.1070G>T
NM_003199.2:c.1283G>T
NM_001330604.2:c.1280G>T
NM_001330605.2:c.893G>T
NM_001348211.1:c.1157G>T
NM_001348212.1:c.893G>T
NM_001348213.1:c.893G>T
NM_001348214.1:c.800G>T
NM_001348215.1:c.635G>T
NM_001348216.1:c.803G>T
NM_001348217.1:c.1211G>T
NM_001348218.1:c.1211G>T
NM_001348219.1:c.1211G>T
NM_001348220.1:c.1208G>T
NM_001083962.2:c.1283G>T
NM_001243226.3:c.1589G>T
NM_001243227.2:c.1211G>T
NM_001243228.2:c.1301G>T
NM_001243231.2:c.1157G>T
NM_001243233.2:c.893G>T
NM_001243234.2:c.803G>T
NM_001243235.2:c.803G>T
NM_001243236.2:c.803G>T
NM_001330604.3:c.1280G>T
NM_001330605.3:c.893G>T
NM_001348211.2:c.1157G>T
NM_001348212.2:c.893G>T
NM_001348213.2:c.893G>T
NM_001348214.2:c.800G>T
NM_001348215.2:c.635G>T
NM_001348216.2:c.803G>T
NM_001348218.2:c.1211G>T
NM_001348219.2:c.1211G>T
NM_001369567.1:c.1283G>T
NM_001369568.1:c.1283G>T
NM_001369569.1:c.1280G>T
NM_001369570.1:c.1280G>T
NM_001369571.1:c.1283G>T
NM_001369572.1:c.1283G>T
NM_001369573.1:c.1280G>T
NM_001369574.1:c.1280G>T
NM_001369575.1:c.1211G>T
NM_001369576.1:c.1208G>T
NM_001369577.1:c.1208G>T
NM_001369578.1:c.1208G>T
NM_001369579.1:c.1208G>T
NM_001369580.1:c.1208G>T
NM_001369581.1:c.1208G>T
NM_001369582.1:c.1211G>T
NM_001369583.1:c.1211G>T
NM_001369584.1:c.1208G>T
NM_001369585.1:c.1208G>T
NM_001369586.1:c.1214G>T
NM_003199.3:c.1283G>T
NM_001243230.2:c.1274G>T
NC_000018.10:g.55254564C>A
CM000680.2:g.55254564C>A
NC_000018.9:g.52921795C>A
CM000680.1:g.52921795C>A
NC_000018.8:g.51072793C>A
NG_011716.1:g.339066G>T
NG_011716.2:g.386430G>T
More

Likely Benign

Met criteria codes 2
BP4 BS2
Not Met criteria codes 3
PS4 PM2 BS1

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.Gly428Val variant is observed in at least 2 unaffected individuals (internal database) (BS2). Computational analysis prediction tools suggest that the p.Gly428Val variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly428Val variant in TCF4 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP4).
Met criteria codes
BP4
Computational analysis prediction tools suggest that the p.Gly428Val variant does not have a deleterious impact; however this information does not predict clinical significance on its own
BS2
The p.Gly428Val variant is observed in at least 2 unaffected individuals (internal database)
Not Met criteria codes
PS4
The p.Gly428Val variant in TCF4 has not been reported in individuals with Pitt-Hopkins syndrome.
PM2
The p.Gly428Val variant in TCF4 is present in gnomAD (3 alelles).
BS1
The allele frequency of the p.Gly428Val variant in TCF4 is 0.006% in the Latino sub population in gnomAD,, which is not high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for rare dominant conditions.
Curation History
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