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NM_001077653.2(TBX20):c.1136T>C (p.Ile379Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 6, 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:
RCV002324273.2

Allele description [Variation Report for NM_001077653.2(TBX20):c.1136T>C (p.Ile379Thr)]

NM_001077653.2(TBX20):c.1136T>C (p.Ile379Thr)

Gene:
TBX20:T-box transcription factor 20 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.2
Genomic location:
Preferred name:
NM_001077653.2(TBX20):c.1136T>C (p.Ile379Thr)
HGVS:
  • NC_000007.14:g.35202638A>G
  • NG_015805.1:g.56462T>C
  • NM_001077653.2:c.1136T>CMANE SELECT
  • NP_001071121.1:p.Ile379Thr
  • LRG_755t1:c.1136T>C
  • LRG_755:g.56462T>C
  • LRG_755p1:p.Ile379Thr
  • NC_000007.13:g.35242250A>G
Protein change:
I379T
Links:
dbSNP: rs1236811449
NCBI 1000 Genomes Browser:
rs1236811449
Molecular consequence:
  • NM_001077653.2:c.1136T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002606954Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 6, 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

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, Penny DJ, Fraser CD, Martin JF, Eng C, Lupski JR, Gibbs RA, Boerwinkle E, et al.

Genome Med. 2017 Oct 31;9(1):95. doi: 10.1186/s13073-017-0482-5.

PubMed [citation]
PMID:
29089047
PMCID:
PMC5664429

Details of each submission

From Ambry Genetics, SCV002606954.2

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

Description

The p.I379T variant (also known as c.1136T>C), located in coding exon 8 of the TBX20 gene, results from a T to C substitution at nucleotide position 1136. The isoleucine at codon 379 is replaced by threonine, an amino acid with similar properties. This alteration was identified in a cohort of individuals undergoing whole exome sequencing for diverse clinical indications (Li AH et al. Genome Med, 2017 10;9:95). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024