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]
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  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computer assertion could be determined for this classification!

Variant: NM_001083962.2(TCF4):c.305G>A (p.Ser102Asn)

CA319094

207529 (ClinVar)

Gene: TCF4
Condition: Pitt-Hopkins syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 22b57b3a-ddd8-496c-8622-27b5aa294e84
Approved on: 2024-06-25
Published on: 2024-08-23

HGVS expressions

NM_001083962.2:c.305G>A
NM_001083962.2(TCF4):c.305G>A (p.Ser102Asn)
NC_000018.10:g.55403518C>T
CM000680.2:g.55403518C>T
NC_000018.9:g.53070749C>T
CM000680.1:g.53070749C>T
NC_000018.8:g.51221747C>T
NG_011716.1:g.190112G>A
NG_011716.2:g.237476G>A
ENST00000354452.8:c.305G>A
ENST00000635822.2:c.305G>A
ENST00000636400.2:c.233G>A
ENST00000636751.2:c.233G>A
ENST00000637115.2:c.*195G>A
ENST00000637239.2:n.372G>A
ENST00000637500.1:n.94G>A
ENST00000638154.3:c.335G>A
ENST00000674598.1:n.775G>A
ENST00000674764.1:c.179-52518G>A
ENST00000675707.1:c.-86G>A
ENST00000354452.7:c.305G>A
ENST00000356073.8:c.305G>A
ENST00000398339.5:c.611G>A
ENST00000537578.5:c.233G>A
ENST00000540999.5:c.233G>A
ENST00000543082.5:c.179G>A
ENST00000544241.6:c.95G>A
ENST00000561992.5:c.-86G>A
ENST00000562543.5:c.305G>A
ENST00000562847.5:c.68G>A
ENST00000563686.5:n.160G>A
ENST00000563824.5:c.233G>A
ENST00000563888.6:c.233G>A
ENST00000564228.5:c.95G>A
ENST00000564343.5:c.233G>A
ENST00000564403.6:c.305G>A
ENST00000564999.5:c.305G>A
ENST00000565018.6:c.233G>A
ENST00000565580.3:n.234G>A
ENST00000565908.6:c.233G>A
ENST00000566279.5:c.305G>A
ENST00000566286.5:c.299G>A
ENST00000566514.5:c.266G>A
ENST00000566777.5:c.-86G>A
ENST00000567880.5:c.305G>A
ENST00000568147.5:c.269G>A
ENST00000568169.5:c.317G>A
ENST00000568186.5:c.-83G>A
ENST00000568673.5:c.233G>A
ENST00000568740.5:c.233G>A
ENST00000569357.4:c.514G>A
ENST00000616053.4:c.233G>A
ENST00000625716.2:n.235G>A
ENST00000625925.2:c.-83G>A
ENST00000626425.2:c.233G>A
ENST00000626584.2:c.-164G>A
ENST00000626595.2:c.305G>A
ENST00000627136.2:n.279G>A
ENST00000627685.2:c.233G>A
ENST00000627784.2:c.305G>A
ENST00000628078.2:c.-86G>A
ENST00000628636.2:c.-86G>A
ENST00000629343.2:c.-22+18674G>A
ENST00000629387.2:c.305G>A
ENST00000630319.2:c.74G>A
ENST00000630712.2:c.-86G>A
ENST00000630828.2:c.95G>A
ENST00000631043.2:n.104G>A
NM_001083962.1:c.305G>A
NM_001243226.2:c.611G>A
NM_001243227.1:c.233G>A
NM_001243228.1:c.305G>A
NM_001243230.1:c.299G>A
NM_001243231.1:c.179G>A
NM_001243232.1:c.95G>A
NM_001243233.1:c.-86G>A
NM_001306207.1:c.233G>A
NM_001306208.1:c.95G>A
NM_003199.2:c.305G>A
NM_001330604.2:c.305G>A
NM_001348211.1:c.179G>A
NM_001348212.1:c.-83G>A
NM_001348213.1:c.-86G>A
NM_001348217.1:c.233G>A
NM_001348218.1:c.233G>A
NM_001348219.1:c.233G>A
NM_001348220.1:c.233G>A
NM_001243226.3:c.611G>A
NM_001243227.2:c.233G>A
NM_001243228.2:c.305G>A
NM_001243231.2:c.179G>A
NM_001243233.2:c.-86G>A
NM_001330604.3:c.305G>A
NM_001348211.2:c.179G>A
NM_001348212.2:c.-83G>A
NM_001348213.2:c.-86G>A
NM_001348218.2:c.233G>A
NM_001348219.2:c.233G>A
NM_001369567.1:c.305G>A
NM_001369568.1:c.305G>A
NM_001369569.1:c.305G>A
NM_001369570.1:c.305G>A
NM_001369571.1:c.305G>A
NM_001369572.1:c.305G>A
NM_001369573.1:c.305G>A
NM_001369574.1:c.305G>A
NM_001369575.1:c.233G>A
NM_001369576.1:c.233G>A
NM_001369577.1:c.233G>A
NM_001369578.1:c.233G>A
NM_001369579.1:c.233G>A
NM_001369580.1:c.233G>A
NM_001369581.1:c.233G>A
NM_001369582.1:c.233G>A
NM_001369583.1:c.233G>A
NM_001369584.1:c.233G>A
NM_001369585.1:c.233G>A
NM_001369586.1:c.233G>A
NM_003199.3:c.305G>A
NM_001243230.2:c.299G>A

Likely Benign

Met criteria codes 2
BS2 BP4
Not Met criteria codes 2
BS1 PM5

Evidence Links 0

Expert Panel

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 p.Ser102Asn variant in TCF4 is present in 1 XX individual in gnomAD v4.0 (0.00016%) (not sufficient to meet BS1 criteria). The p.Ser102Asn variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2). Computational analysis prediction tools suggest that the p.Ser102Asn variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Ser102Asn variant in TCF4 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP4).
Met criteria codes
BS2
The p.Ser102Asn variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2).
BP4
Computational analysis prediction tools suggest that the p.Ser102Asn variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4).
Not Met criteria codes
BS1
The p.Ser102Asn variant in TCF4 is present in 1 XX individual(s) in gnomAD v4.0 (0.00016%) (not sufficient to meet BS1 criteria).
PM5
Functional study of p.S102C associated with Schizophrenia shows no impact (PMID: 34748727) (no criteria met).
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