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NM_181486.4(TBX5):c.427G>A (p.Ala143Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 2024
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:
RCV004674003.1

Allele description [Variation Report for NM_181486.4(TBX5):c.427G>A (p.Ala143Thr)]

NM_181486.4(TBX5):c.427G>A (p.Ala143Thr)

Gene:
TBX5:T-box transcription factor 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_181486.4(TBX5):c.427G>A (p.Ala143Thr)
Other names:
p.Ala143Thr
HGVS:
  • NC_000012.12:g.114398656C>T
  • NG_007373.1:g.14787G>A
  • NM_000192.3:c.427G>A
  • NM_080717.4:c.277G>A
  • NM_181486.4:c.427G>AMANE SELECT
  • NP_000183.2:p.Ala143Thr
  • NP_542448.1:p.Ala93Thr
  • NP_852259.1:p.Ala143Thr
  • LRG_670t1:c.427G>A
  • LRG_670:g.14787G>A
  • LRG_670p1:p.Ala143Thr
  • NC_000012.11:g.114836461C>T
Protein change:
A143T
Molecular consequence:
  • NM_000192.3:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080717.4:c.277G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181486.4:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005168713Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 25, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy.

Zhou W, Zhao L, Jiang JQ, Jiang WF, Yang YQ, Qiu XB.

Int J Mol Med. 2015 Jul;36(1):282-8. doi: 10.3892/ijmm.2015.2206. Epub 2015 May 11.

PubMed [citation]
PMID:
25963046

Details of each submission

From Ambry Genetics, SCV005168713.1

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

Description

The p.A143T variant (also known as c.427G>A), located in coding exon 4 of the TBX5 gene, results from a G to A substitution at nucleotide position 427. The alanine at codon 143 is replaced by threonine, an amino acid with similar properties. This variant has been detected in an individual with dilated cardiomyopathy (Zhou W et al. Int J Mol Med, 2015 Jul;36:282-8). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024