NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) AND Inborn genetic diseases

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 21, 2017
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:: RCV002316975.9

Allele description [Variation Report for NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser)]

NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser)

Genes:

TCF4-AS1:TCF4 antisense RNA 1 [Gene - HGNC]
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.269A>G (p.Asn90Ser)

HGVS:

NC_000018.10:g.55461054T>C
NG_011716.2:g.179940A>G
NM_001083962.2:c.269A>GMANE SELECT
NM_001243226.3:c.575A>G
NM_001243227.2:c.197A>G
NM_001243228.2:c.269A>G
NM_001243230.2:c.263A>G
NM_001243231.2:c.143A>G
NM_001306207.1:c.197A>G
NM_001330604.3:c.269A>G
NM_001348211.2:c.143A>G
NM_001348217.1:c.197A>G
NM_001348218.2:c.197A>G
NM_001348219.2:c.197A>G
NM_001348220.1:c.197A>G
NM_001369567.1:c.269A>G
NM_001369568.1:c.269A>G
NM_001369569.1:c.269A>G
NM_001369570.1:c.269A>G
NM_001369571.1:c.269A>G
NM_001369572.1:c.269A>G
NM_001369573.1:c.269A>G
NM_001369574.1:c.269A>G
NM_001369575.1:c.197A>G
NM_001369576.1:c.197A>G
NM_001369577.1:c.197A>G
NM_001369578.1:c.197A>G
NM_001369579.1:c.197A>G
NM_001369580.1:c.197A>G
NM_001369581.1:c.197A>G
NM_001369582.1:c.197A>G
NM_001369583.1:c.197A>G
NM_001369584.1:c.197A>G
NM_001369585.1:c.197A>G
NM_001369586.1:c.197A>G
NM_003199.3:c.269A>G
NP_001077431.1:p.Asn90Ser
NP_001230155.2:p.Asn192Ser
NP_001230156.1:p.Asn66Ser
NP_001230157.1:p.Asn90Ser
NP_001230159.1:p.Asn88Ser
NP_001230160.1:p.Asn48Ser
NP_001293136.1:p.Asn66Ser
NP_001317533.1:p.Asn90Ser
NP_001335140.1:p.Asn48Ser
NP_001335146.1:p.Asn66Ser
NP_001335147.1:p.Asn66Ser
NP_001335148.1:p.Asn66Ser
NP_001335149.1:p.Asn66Ser
NP_001356496.1:p.Asn90Ser
NP_001356497.1:p.Asn90Ser
NP_001356498.1:p.Asn90Ser
NP_001356499.1:p.Asn90Ser
NP_001356500.1:p.Asn90Ser
NP_001356501.1:p.Asn90Ser
NP_001356502.1:p.Asn90Ser
NP_001356503.1:p.Asn90Ser
NP_001356504.1:p.Asn66Ser
NP_001356505.1:p.Asn66Ser
NP_001356506.1:p.Asn66Ser
NP_001356507.1:p.Asn66Ser
NP_001356508.1:p.Asn66Ser
NP_001356509.1:p.Asn66Ser
NP_001356510.1:p.Asn66Ser
NP_001356511.1:p.Asn66Ser
NP_001356512.1:p.Asn66Ser
NP_001356513.1:p.Asn66Ser
NP_001356514.1:p.Asn66Ser
NP_001356515.1:p.Asn66Ser
NP_003190.1:p.Asn90Ser
NC_000018.9:g.53128285T>C
NM_001083962.1:c.269A>G
NM_001083962.2(TCF4):c.269A>GMANE SELECT

Protein change:

N192S

Links:

dbSNP: rs143244149

NCBI 1000 Genomes Browser:

rs143244149

Molecular consequence:

NM_001083962.2:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243226.3:c.575A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243227.2:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243228.2:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243230.2:c.263A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243231.2:c.143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001306207.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330604.3:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348211.2:c.143A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348217.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348218.2:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348219.2:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001348220.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369567.1:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369568.1:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369569.1:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369570.1:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369571.1:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369572.1:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369573.1:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369574.1:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369575.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369576.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369577.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369578.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369579.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369580.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369581.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369582.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369583.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369584.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369585.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369586.1:c.197A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003199.3:c.269A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Nucleotide
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000850494	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Mar 21, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000850494

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Mar 21, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000850494.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024

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