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NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 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:
RCV002489557.1

Allele description [Variation Report for NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)]

NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)

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.842C>A (p.Ala281Glu)
HGVS:
  • NC_000005.10:g.173232702G>T
  • NG_013340.1:g.7611C>A
  • NM_001166175.2:c.*795C>A
  • NM_001166176.2:c.*641C>A
  • NM_004387.4:c.842C>AMANE SELECT
  • NP_004378.1:p.Ala281Glu
  • LRG_671t1:c.842C>A
  • LRG_671:g.7611C>A
  • LRG_671p1:p.Ala281Glu
  • NC_000005.9:g.172659705G>T
  • NM_004387.3:c.842C>A
Protein change:
A281E
Links:
dbSNP: rs1206339157
NCBI 1000 Genomes Browser:
rs1206339157
Molecular consequence:
  • NM_001166175.2:c.*795C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166176.2:c.*641C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004387.4:c.842C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atrial septal defect 7
Synonyms:
Atrial septal defect with atrioventricular conduction defects; ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect 7 with or without atrioventricular conduction defects; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007173; MedGen: C3276096; Orphanet: 1479; OMIM: 108900
Name:
Conotruncal heart malformations (CTHM)
Synonyms:
Conotruncal cardiac defects
Identifiers:
MONDO: MONDO:0016581; MedGen: C1857586; Orphanet: 3384; Orphanet: 3426; OMIM: 217095
Name:
Hypothyroidism, congenital, nongoitrous, 5 (CHNG5)
Identifiers:
MONDO: MONDO:0009154; MedGen: C2673630; Orphanet: 95712; OMIM: 225250
Name:
Tetralogy of Fallot (TOF)
Synonyms:
Fallot tetralogy
Identifiers:
MONDO: MONDO:0008542; MedGen: C0039685; Orphanet: 3303; OMIM: 187500; Human Phenotype Ontology: HP:0001636
Name:
Ventricular septal defect 3 (VSD3)
Identifiers:
MONDO: MONDO:0013749; MedGen: C3280785; OMIM: 614432
Name:
Hypoplastic left heart syndrome 2 (HLHS2)
Identifiers:
MONDO: MONDO:0013752; MedGen: C3280795; Orphanet: 2248; OMIM: 614435

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002794427Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 18, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002794427.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024