NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 2, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001266245.3

Allele description [Variation Report for NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)]

NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)

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.1738C>T (p.Arg580Trp)

HGVS:

NC_000018.10:g.55228988G>A
NG_011716.2:g.412006C>T
NM_001083962.1(TCF4):c.1738C>T
NM_001083962.2:c.1738C>TMANE SELECT
NM_001243226.3:c.2044C>T
NM_001243227.2:c.1666C>T
NM_001243228.2:c.1756C>T
NM_001243230.2:c.1717C>T
NM_001243231.2:c.1600C>T
NM_001243232.1:c.1525C>T
NM_001243233.2:c.1336C>T
NM_001243234.2:c.1258C>T
NM_001243235.2:c.1246C>T
NM_001243236.2:c.1246C>T
NM_001306207.1:c.1654C>T
NM_001306208.1:c.1513C>T
NM_001330604.3:c.1735C>T
NM_001330605.3:c.1348C>T
NM_001348211.2:c.1612C>T
NM_001348212.2:c.1336C>T
NM_001348213.2:c.1348C>T
NM_001348214.2:c.1243C>T
NM_001348215.2:c.1090C>T
NM_001348216.2:c.1258C>T
NM_001348217.1:c.1666C>T
NM_001348218.2:c.1666C>T
NM_001348219.2:c.1654C>T
NM_001348220.1:c.1651C>T
NM_001369567.1:c.1738C>T
NM_001369568.1:c.1738C>T
NM_001369569.1:c.1735C>T
NM_001369570.1:c.1735C>T
NM_001369571.1:c.1726C>T
NM_001369572.1:c.1726C>T
NM_001369573.1:c.1723C>T
NM_001369574.1:c.1723C>T
NM_001369575.1:c.1666C>T
NM_001369576.1:c.1663C>T
NM_001369577.1:c.1663C>T
NM_001369578.1:c.1663C>T
NM_001369579.1:c.1663C>T
NM_001369580.1:c.1663C>T
NM_001369581.1:c.1663C>T
NM_001369582.1:c.1654C>T
NM_001369583.1:c.1654C>T
NM_001369584.1:c.1651C>T
NM_001369585.1:c.1651C>T
NM_001369586.1:c.1669C>T
NM_003199.3:c.1726C>T
NP_001077431.1:p.Arg580Trp
NP_001230155.2:p.Arg682Trp
NP_001230156.1:p.Arg556Trp
NP_001230157.1:p.Arg586Trp
NP_001230159.1:p.Arg573Trp
NP_001230160.1:p.Arg534Trp
NP_001230161.1:p.Arg509Trp
NP_001230162.1:p.Arg446Trp
NP_001230163.1:p.Arg420Trp
NP_001230164.1:p.Arg416Trp
NP_001230165.1:p.Arg416Trp
NP_001293136.1:p.Arg552Trp
NP_001293137.1:p.Arg505Trp
NP_001317533.1:p.Arg579Trp
NP_001317534.1:p.Arg450Trp
NP_001335140.1:p.Arg538Trp
NP_001335141.1:p.Arg446Trp
NP_001335142.1:p.Arg450Trp
NP_001335143.1:p.Arg415Trp
NP_001335144.1:p.Arg364Trp
NP_001335145.1:p.Arg420Trp
NP_001335146.1:p.Arg556Trp
NP_001335147.1:p.Arg556Trp
NP_001335148.1:p.Arg552Trp
NP_001335149.1:p.Arg551Trp
NP_001356496.1:p.Arg580Trp
NP_001356497.1:p.Arg580Trp
NP_001356498.1:p.Arg579Trp
NP_001356499.1:p.Arg579Trp
NP_001356500.1:p.Arg576Trp
NP_001356501.1:p.Arg576Trp
NP_001356502.1:p.Arg575Trp
NP_001356503.1:p.Arg575Trp
NP_001356504.1:p.Arg556Trp
NP_001356505.1:p.Arg555Trp
NP_001356506.1:p.Arg555Trp
NP_001356507.1:p.Arg555Trp
NP_001356508.1:p.Arg555Trp
NP_001356509.1:p.Arg555Trp
NP_001356510.1:p.Arg555Trp
NP_001356511.1:p.Arg552Trp
NP_001356512.1:p.Arg552Trp
NP_001356513.1:p.Arg551Trp
NP_001356514.1:p.Arg551Trp
NP_001356515.1:p.Arg557Trp
NP_003190.1:p.Arg576Trp
NC_000018.9:g.52896219G>A
NM_001083962.1(TCF4):c.1738C>T
NM_001083962.1:c.1738C>T
NM_001243226.2:c.2044C>T
p.Arg580Trp

Protein change:

R364W; ARG576TRP

Links:

OMIM: 602272.0001; dbSNP: rs121909120

NCBI 1000 Genomes Browser:

rs121909120

Molecular consequence:

NM_001083962.2:c.1738C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243226.3:c.2044C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243227.2:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243228.2:c.1756C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243230.2:c.1717C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243231.2:c.1600C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243232.1:c.1525C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243233.2:c.1336C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243234.2:c.1258C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243235.2:c.1246C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243236.2:c.1246C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001306207.1:c.1654C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001306208.1:c.1513C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330604.3:c.1735C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330605.3:c.1348C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348211.2:c.1612C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348212.2:c.1336C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348213.2:c.1348C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348214.2:c.1243C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348215.2:c.1090C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348216.2:c.1258C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348217.1:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348218.2:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348219.2:c.1654C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001348220.1:c.1651C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369567.1:c.1738C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369568.1:c.1738C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369569.1:c.1735C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369570.1:c.1735C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369571.1:c.1726C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369572.1:c.1726C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369573.1:c.1723C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369574.1:c.1723C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369575.1:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369576.1:c.1663C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369577.1:c.1663C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369578.1:c.1663C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369579.1:c.1663C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369580.1:c.1663C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369581.1:c.1663C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369582.1:c.1654C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369583.1:c.1654C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369584.1:c.1651C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369585.1:c.1651C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369586.1:c.1669C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003199.3:c.1726C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444417	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Oct 2, 2019)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 22045651, 17436255, 29318938, 17436254, 26621827 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444417

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Oct 2, 2019)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian /Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.

Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, et al.

Hum Mutat. 2012 Jan;33(1):64-72. doi: 10.1002/humu.21639. Epub 2011 Nov 23.

PubMed [citation]

PMID:: 22045651

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A.

Am J Hum Genet. 2007 May;80(5):994-1001. Epub 2007 Mar 23.

PubMed [citation]

PMID:: 17436255
PMCID:: PMC1852727

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV001444417.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian /Hispanic	1	not provided	not provided	clinical testing	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine