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NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV002334934.2

Allele description [Variation Report for NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val)]

NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val)

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.494C>T (p.Ala165Val)
HGVS:
  • NC_000005.10:g.173233050G>A
  • NG_013340.1:g.7263C>T
  • NM_001166175.2:c.*447C>T
  • NM_001166176.2:c.*293C>T
  • NM_004387.4:c.494C>TMANE SELECT
  • NP_004378.1:p.Ala165Val
  • LRG_671t1:c.494C>T
  • LRG_671:g.7263C>T
  • LRG_671p1:p.Ala165Val
  • NC_000005.9:g.172660053G>A
  • NM_004387.3:c.494C>T
Protein change:
A165V
Links:
dbSNP: rs984722259
NCBI 1000 Genomes Browser:
rs984722259
Molecular consequence:
  • NM_001166175.2:c.*447C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166176.2:c.*293C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004387.4:c.494C>T - 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
SCV002642590Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 31, 2018) 		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

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Hauser NS, Solomon BD, Vilboux T, Khromykh A, Baveja R, Bodian DL.

Mol Genet Genomic Med. 2018 Mar;6(2):200-212. doi: 10.1002/mgg3.357. Epub 2018 Jan 25.

PubMed [citation]
PMID:
29368431
PMCID:
PMC5902396

Details of each submission

From Ambry Genetics, SCV002642590.2

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

Description

The p.A165V variant (also known as c.494C>T), located in coding exon 2 of the NKX2-5 gene, results from a C to T substitution at nucleotide position 494. The alanine at codon 165 is replaced by valine, an amino acid with similar properties. This variant was reported in an individual with hypoplastic left heart syndrome and in his unaffected father (Hauser NS et al. Mol Genet Genomic Med, 2018 03;6:200-212). This amino acid position is highly 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