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NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) AND Ventricular septal defect 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2010
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:
RCV000023023.3

Allele description [Variation Report for NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)]

NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)

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.848C>A (p.Pro283Gln)
HGVS:
  • NC_000005.10:g.173232696G>T
  • NG_013340.1:g.7617C>A
  • NM_001166175.2:c.*801C>A
  • NM_001166176.2:c.*647C>A
  • NM_004387.4:c.848C>AMANE SELECT
  • NP_004378.1:p.Pro283Gln
  • LRG_671t1:c.848C>A
  • LRG_671:g.7617C>A
  • LRG_671p1:p.Pro283Gln
  • NC_000005.9:g.172659699G>T
  • NM_004387.3:c.848C>A
  • P52952:p.Pro283Gln
Protein change:
P283Q; PRO283GLN
Links:
UniProtKB: P52952#VAR_067587; OMIM: 600584.0021; dbSNP: rs375086983
NCBI 1000 Genomes Browser:
rs375086983
Molecular consequence:
  • NM_001166175.2:c.*801C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166176.2:c.*647C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004387.4:c.848C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ventricular septal defect 3 (VSD3)
Identifiers:
MONDO: MONDO:0013749; MedGen: C3280785; OMIM: 614432

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044314OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2010) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

Peng T, Wang L, Zhou SF, Li X.

Genetica. 2010 Dec;138(11-12):1231-40. doi: 10.1007/s10709-010-9522-4. Epub 2010 Nov 26.

PubMed [citation]
PMID:
21110066

Details of each submission

From OMIM, SCV000044314.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Chinese pediatric patient with ventricular septal defect (VSD3; 614432), Peng et al. (2010) identified heterozygosity for an 848C-A transversion in exon 2 of the NKX2-5 gene, resulting in a pro283-to-gln (P283Q) substitution in the C-terminal region. The mutation was not found in 114 controls.

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

Last Updated: Sep 29, 2024