NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 18, 2021
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:: RCV000617167.3

Allele description [Variation Report for NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp)]

NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp)

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.887G>A (p.Gly296Asp)

HGVS:

NC_000005.10:g.173232657C>T
NG_013340.1:g.7656G>A
NM_001166175.2:c.*840G>A
NM_001166176.2:c.*686G>A
NM_004387.4:c.887G>AMANE SELECT
NP_004378.1:p.Gly296Asp
LRG_671t1:c.887G>A
LRG_671:g.7656G>A
LRG_671p1:p.Gly296Asp
NC_000005.9:g.172659660C>T
NM_004387.3:c.887G>A

Protein change:

G296D

Links:

dbSNP: rs373421818

NCBI 1000 Genomes Browser:

rs373421818

Molecular consequence:

NM_001166175.2:c.*840G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001166176.2:c.*686G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004387.4:c.887G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000737200	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 18, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000737200

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 18, 2021)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.

Abdul Samad F, Suliman BA, Basha SH, Manivasagam T, Essa MM.

PLoS One. 2016;11(5):e0153999. doi: 10.1371/journal.pone.0153999.

PubMed [citation]

PMID:: 27152669
PMCID:: PMC4859487

Details of each submission

From Ambry Genetics, SCV000737200.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.G296D variant (also known as c.887G>A), located in coding exon 2 of the NKX2-5 gene, results from a G to A substitution at nucleotide position 887. The glycine at codon 296 is replaced by aspartic acid, an amino acid with similar properties. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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