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NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) AND Severe intellectual deficiency

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000415008.2

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]

Condition(s)

Name:
Severe intellectual deficiency
Identifiers:
MedGen: CN239858

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000493081Laboratory of Molecular Genetics, CHU Rennes
no assertion criteria provided
Likely pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Molecular Genetics, CHU Rennes, SCV000493081.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024