NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) AND History of neurodevelopmental disorder

Clinical significance:Likely benign (Last evaluated: Jun 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000719976.1

Allele description [Variation Report for NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)]

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

Gene:
TCF4:transcription factor 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.2
Genomic location:
Preferred name:
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)
Other names:
p.A315V:GCC>GTC
HGVS:
  • NC_000018.10:g.55261512G>A
  • NG_011716.2:g.379482C>T
  • NM_001083962.2:c.944C>TMANE SELECT
  • NM_001243226.3:c.1250C>T
  • NM_001243227.2:c.872C>T
  • NM_001243228.2:c.962C>T
  • NM_001243230.2:c.938C>T
  • NM_001243231.2:c.818C>T
  • NM_001243232.1:c.731C>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_001306207.1:c.872C>T
  • NM_001306208.1:c.731C>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_001348217.1:c.872C>T
  • NM_001348218.2:c.872C>T
  • NM_001348219.2:c.872C>T
  • NM_001348220.1:c.869C>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
  • NP_001077431.1:p.Ala315Val
  • NP_001230155.2:p.Ala417Val
  • NP_001230156.1:p.Ala291Val
  • NP_001230157.1:p.Ala321Val
  • NP_001230159.1:p.Ala313Val
  • NP_001230160.1:p.Ala273Val
  • NP_001230161.1:p.Ala244Val
  • NP_001230162.1:p.Ala185Val
  • NP_001230163.1:p.Ala155Val
  • NP_001230164.1:p.Ala155Val
  • NP_001230165.1:p.Ala155Val
  • NP_001293136.1:p.Ala291Val
  • NP_001293137.1:p.Ala244Val
  • NP_001317533.1:p.Ala315Val
  • NP_001317534.1:p.Ala185Val
  • NP_001335140.1:p.Ala273Val
  • NP_001335141.1:p.Ala185Val
  • NP_001335142.1:p.Ala185Val
  • NP_001335143.1:p.Ala155Val
  • NP_001335144.1:p.Ala99Val
  • NP_001335145.1:p.Ala155Val
  • NP_001335146.1:p.Ala291Val
  • NP_001335147.1:p.Ala291Val
  • NP_001335148.1:p.Ala291Val
  • NP_001335149.1:p.Ala290Val
  • NP_001356496.1:p.Ala315Val
  • NP_001356497.1:p.Ala315Val
  • NP_001356498.1:p.Ala314Val
  • NP_001356499.1:p.Ala314Val
  • NP_001356500.1:p.Ala315Val
  • NP_001356501.1:p.Ala315Val
  • NP_001356502.1:p.Ala314Val
  • NP_001356503.1:p.Ala315Val
  • NP_001356504.1:p.Ala291Val
  • NP_001356505.1:p.Ala290Val
  • NP_001356506.1:p.Ala291Val
  • NP_001356507.1:p.Ala290Val
  • NP_001356508.1:p.Ala291Val
  • NP_001356509.1:p.Ala291Val
  • NP_001356510.1:p.Ala290Val
  • NP_001356511.1:p.Ala291Val
  • NP_001356512.1:p.Ala291Val
  • NP_001356513.1:p.Ala290Val
  • NP_001356514.1:p.Ala290Val
  • NP_001356515.1:p.Ala291Val
  • NP_003190.1:p.Ala315Val
  • NC_000018.9:g.52928743G>A
  • NM_001083962.1:c.944C>T
  • NM_001083962.2(TCF4):c.944C>TMANE SELECT
  • p.Ala315Val
Protein change:
A155V
Links:
dbSNP: rs147445499
NCBI 1000 Genomes Browser:
rs147445499
Molecular consequence:
  • NM_001083962.2:c.944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243226.3:c.1250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243227.2:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243228.2:c.962C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243230.2:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243231.2:c.818C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243232.1:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243233.2:c.554C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243234.2:c.464C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243235.2:c.464C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243236.2:c.464C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306207.1:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306208.1:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330604.3:c.944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330605.3:c.554C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348211.2:c.818C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348212.2:c.554C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348213.2:c.554C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348214.2:c.464C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348215.2:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348216.2:c.464C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348217.1:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348218.2:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348219.2:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348220.1:c.869C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369567.1:c.944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369568.1:c.944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369569.1:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369570.1:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369571.1:c.944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369572.1:c.944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369573.1:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369574.1:c.944C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369575.1:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369576.1:c.869C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369577.1:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369578.1:c.869C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369579.1:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369580.1:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369581.1:c.869C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369582.1:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369583.1:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369584.1:c.869C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369585.1:c.869C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369586.1:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003199.3:c.944C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000850850Ambry Geneticscriteria provided, single submitter
Likely benign
(Jun 6, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

A survey of rare coding variants in candidate genes in schizophrenia by deep sequencing.

Hu X, Zhang B, Liu W, Paciga S, He W, Lanz TA, Kleiman R, Dougherty B, Hall SK, McIntosh AM, Lawrie SM, Power A, John SL, Blackwood D, St Clair D, Brandon NJ.

Mol Psychiatry. 2014 Aug;19(8):857-8. doi: 10.1038/mp.2013.131. Epub 2013 Oct 15. No abstract available.

PubMed [citation]
PMID:
24126932
PMCID:
PMC4113932

Investigation of the role of TCF4 rare sequence variants in schizophrenia.

Basmanav FB, Forstner AJ, Fier H, Herms S, Meier S, Degenhardt F, Hoffmann P, Barth S, Fricker N, Strohmaier J, Witt SH, Ludwig M, Schmael C, Moebus S, Maier W, Mössner R, Rujescu D, Rietschel M, Lange C, Nöthen MM, Cichon S.

Am J Med Genet B Neuropsychiatr Genet. 2015 Jul;168B(5):354-62. doi: 10.1002/ajmg.b.32318. Epub 2015 May 22.

PubMed [citation]
PMID:
26010163

Details of each submission

From Ambry Genetics, SCV000850850.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

Other data supporting benign classification;Subpopulation frequency in support of benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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