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NM_004387.4(NKX2-5):c.835T>G (p.Ser279Ala) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2023
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:
RCV003172155.2

Allele description [Variation Report for NM_004387.4(NKX2-5):c.835T>G (p.Ser279Ala)]

NM_004387.4(NKX2-5):c.835T>G (p.Ser279Ala)

Gene:
NKX2-5:NK2 homeobox 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.1
Genomic location:
Preferred name:
NM_004387.4(NKX2-5):c.835T>G (p.Ser279Ala)
HGVS:
  • NC_000005.10:g.173232709A>C
  • NG_013340.1:g.7604T>G
  • NG_106657.1:g.684A>C
  • NM_001166175.2:c.*788T>G
  • NM_001166176.2:c.*634T>G
  • NM_004387.4:c.835T>GMANE SELECT
  • NP_004378.1:p.Ser279Ala
  • LRG_671t1:c.835T>G
  • LRG_671:g.7604T>G
  • LRG_671p1:p.Ser279Ala
  • NC_000005.9:g.172659712A>C
  • NM_004387.3:c.835T>G
Protein change:
S279A
Molecular consequence:
  • NM_001166175.2:c.*788T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166176.2:c.*634T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004387.4:c.835T>G - 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
SCV003858938Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 23, 2023) 		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

An update on genetic variants of the NKX2-5.

Kolomenski JE, Delea M, Simonetti L, Fabbro MC, Espeche LD, Taboas M, Nadra AD, Bruque CD, Dain L.

Hum Mutat. 2020 Jul;41(7):1187-1208. doi: 10.1002/humu.24030. Epub 2020 May 22.

PubMed [citation]
PMID:
32369864

Details of each submission

From Ambry Genetics, SCV003858938.2

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

Description

The p.S279A variant (also known as c.835T>G), located in coding exon 2 of the NKX2-5 gene, results from a T to G substitution at nucleotide position 835. The serine at codon 279 is replaced by alanine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: May 1, 2024