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NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp) AND Oculomotor apraxia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 27, 2020
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:
RCV001263440.2

Allele description [Variation Report for NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp)]

NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp)

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.1106C>A (p.Ala369Asp)
HGVS:
  • NC_000018.10:g.55257355G>T
  • NG_011716.2:g.383639C>A
  • NM_001083962.2:c.1106C>AMANE SELECT
  • NM_001243226.3:c.1412C>A
  • NM_001243227.2:c.1034C>A
  • NM_001243228.2:c.1124C>A
  • NM_001243230.2:c.1097C>A
  • NM_001243231.2:c.980C>A
  • NM_001243232.1:c.893C>A
  • NM_001243233.2:c.716C>A
  • NM_001243234.2:c.626C>A
  • NM_001243235.2:c.626C>A
  • NM_001243236.2:c.626C>A
  • NM_001306207.1:c.1034C>A
  • NM_001306208.1:c.893C>A
  • NM_001330604.3:c.1103C>A
  • NM_001330605.3:c.716C>A
  • NM_001348211.2:c.980C>A
  • NM_001348212.2:c.716C>A
  • NM_001348213.2:c.716C>A
  • NM_001348214.2:c.623C>A
  • NM_001348215.2:c.458C>A
  • NM_001348216.2:c.626C>A
  • NM_001348217.1:c.1034C>A
  • NM_001348218.2:c.1034C>A
  • NM_001348219.2:c.1034C>A
  • NM_001348220.1:c.1031C>A
  • NM_001369567.1:c.1106C>A
  • NM_001369568.1:c.1106C>A
  • NM_001369569.1:c.1103C>A
  • NM_001369570.1:c.1103C>A
  • NM_001369571.1:c.1106C>A
  • NM_001369572.1:c.1106C>A
  • NM_001369573.1:c.1103C>A
  • NM_001369574.1:c.1103C>A
  • NM_001369575.1:c.1034C>A
  • NM_001369576.1:c.1031C>A
  • NM_001369577.1:c.1031C>A
  • NM_001369578.1:c.1031C>A
  • NM_001369579.1:c.1031C>A
  • NM_001369580.1:c.1031C>A
  • NM_001369581.1:c.1031C>A
  • NM_001369582.1:c.1034C>A
  • NM_001369583.1:c.1034C>A
  • NM_001369584.1:c.1031C>A
  • NM_001369585.1:c.1031C>A
  • NM_001369586.1:c.1037C>A
  • NM_003199.3:c.1106C>A
  • NP_001077431.1:p.Ala369Asp
  • NP_001230155.2:p.Ala471Asp
  • NP_001230156.1:p.Ala345Asp
  • NP_001230157.1:p.Ala375Asp
  • NP_001230159.1:p.Ala366Asp
  • NP_001230160.1:p.Ala327Asp
  • NP_001230161.1:p.Ala298Asp
  • NP_001230162.1:p.Ala239Asp
  • NP_001230163.1:p.Ala209Asp
  • NP_001230164.1:p.Ala209Asp
  • NP_001230165.1:p.Ala209Asp
  • NP_001293136.1:p.Ala345Asp
  • NP_001293137.1:p.Ala298Asp
  • NP_001317533.1:p.Ala368Asp
  • NP_001317534.1:p.Ala239Asp
  • NP_001335140.1:p.Ala327Asp
  • NP_001335141.1:p.Ala239Asp
  • NP_001335142.1:p.Ala239Asp
  • NP_001335143.1:p.Ala208Asp
  • NP_001335144.1:p.Ala153Asp
  • NP_001335145.1:p.Ala209Asp
  • NP_001335146.1:p.Ala345Asp
  • NP_001335147.1:p.Ala345Asp
  • NP_001335148.1:p.Ala345Asp
  • NP_001335149.1:p.Ala344Asp
  • NP_001356496.1:p.Ala369Asp
  • NP_001356497.1:p.Ala369Asp
  • NP_001356498.1:p.Ala368Asp
  • NP_001356499.1:p.Ala368Asp
  • NP_001356500.1:p.Ala369Asp
  • NP_001356501.1:p.Ala369Asp
  • NP_001356502.1:p.Ala368Asp
  • NP_001356503.1:p.Ala368Asp
  • NP_001356504.1:p.Ala345Asp
  • NP_001356505.1:p.Ala344Asp
  • NP_001356506.1:p.Ala344Asp
  • NP_001356507.1:p.Ala344Asp
  • NP_001356508.1:p.Ala344Asp
  • NP_001356509.1:p.Ala344Asp
  • NP_001356510.1:p.Ala344Asp
  • NP_001356511.1:p.Ala345Asp
  • NP_001356512.1:p.Ala345Asp
  • NP_001356513.1:p.Ala344Asp
  • NP_001356514.1:p.Ala344Asp
  • NP_001356515.1:p.Ala346Asp
  • NP_003190.1:p.Ala369Asp
  • NC_000018.9:g.52924586G>T
  • NM_001083962.1:c.1106C>A
Protein change:
A153D
Links:
dbSNP: rs1016959427
NCBI 1000 Genomes Browser:
rs1016959427
Molecular consequence:
  • NM_001083962.2:c.1106C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243226.3:c.1412C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243227.2:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243228.2:c.1124C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243230.2:c.1097C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243231.2:c.980C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243232.1:c.893C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243233.2:c.716C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243234.2:c.626C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243235.2:c.626C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243236.2:c.626C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306207.1:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306208.1:c.893C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330604.3:c.1103C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330605.3:c.716C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348211.2:c.980C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348212.2:c.716C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348213.2:c.716C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348214.2:c.623C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348215.2:c.458C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348216.2:c.626C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348217.1:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348218.2:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348219.2:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348220.1:c.1031C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369567.1:c.1106C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369568.1:c.1106C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369569.1:c.1103C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369570.1:c.1103C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369571.1:c.1106C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369572.1:c.1106C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369573.1:c.1103C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369574.1:c.1103C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369575.1:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369576.1:c.1031C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369577.1:c.1031C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369578.1:c.1031C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369579.1:c.1031C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369580.1:c.1031C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369581.1:c.1031C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369582.1:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369583.1:c.1034C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369584.1:c.1031C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369585.1:c.1031C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369586.1:c.1037C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003199.3:c.1106C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Oculomotor apraxia
Identifiers:
MedGen: C3489733; Human Phenotype Ontology: HP:0000657

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001439282Institute of Human Genetics, University of Goettingen
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Oct 27, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV001439282.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024