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NM_181486.4(TBX5):c.506G>T (p.Gly169Val) AND TBX5-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 2023
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:
RCV003957285.2

Allele description [Variation Report for NM_181486.4(TBX5):c.506G>T (p.Gly169Val)]

NM_181486.4(TBX5):c.506G>T (p.Gly169Val)

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.506G>T (p.Gly169Val)
HGVS:
  • NC_000012.12:g.114398577C>A
  • NG_007373.1:g.14866G>T
  • NM_000192.3:c.506G>T
  • NM_080717.4:c.356G>T
  • NM_181486.4:c.506G>TMANE SELECT
  • NP_000183.2:p.Gly169Val
  • NP_542448.1:p.Gly119Val
  • NP_852259.1:p.Gly169Val
  • LRG_670t1:c.506G>T
  • LRG_670:g.14866G>T
  • LRG_670p1:p.Gly169Val
  • NC_000012.11:g.114836382C>A
Protein change:
G119V
Molecular consequence:
  • NM_000192.3:c.506G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080717.4:c.356G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181486.4:c.506G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TBX5-related disorder
Synonyms:
TBX5-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004768459PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Dec 6, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004768459.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The TBX5 c.506G>T variant is predicted to result in the amino acid substitution p.Gly169Val. This variant is located in the highly conserved T-box domain which is involved in DNA binding. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. A different missense variant affecting the same amino acid (p.Gly169Arg) has been reported in a family with congenital heart disease with minor skeletal features (Cross et al. 2000. PubMed ID: 11183182; Fan et al. 2003. PubMed ID: 12499378). Although we suspect this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 8, 2024