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NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 2, 2016
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:
RCV000617599.3

Allele description [Variation Report for NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp)]

NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp)

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.342C>G (p.Cys114Trp)
HGVS:
  • NC_000005.10:g.173233202G>C
  • NG_013340.1:g.7111C>G
  • NM_001166175.2:c.*295C>G
  • NM_001166176.2:c.*141C>G
  • NM_004387.4:c.342C>GMANE SELECT
  • NP_004378.1:p.Cys114Trp
  • LRG_671t1:c.342C>G
  • LRG_671:g.7111C>G
  • LRG_671p1:p.Cys114Trp
  • NC_000005.9:g.172660205G>C
  • NM_004387.3:c.342C>G
Protein change:
C114W
Links:
dbSNP: rs760723447
NCBI 1000 Genomes Browser:
rs760723447
Molecular consequence:
  • NM_001166175.2:c.*295C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166176.2:c.*141C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004387.4:c.342C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000735520Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Sep 2, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000735520.5

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

Description

The p.C114W variant (also known as c.342C>G), located in coding exon 2 of the NKX2-5 gene, results from a C to G substitution at nucleotide position 342. The cysteine at codon 114 is replaced by tryptophan, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. This position was not covered in the ESP. 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