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NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 24, 2023
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:
RCV003336500.1

Allele description [Variation Report for NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)]

NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)

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.763G>A (p.Ala255Thr)
HGVS:
  • NC_000005.10:g.173232781C>T
  • NG_013340.1:g.7532G>A
  • NM_001166175.2:c.*716G>A
  • NM_001166176.2:c.*562G>A
  • NM_004387.3:c.763G>A
  • NM_004387.4:c.763G>AMANE SELECT
  • NP_004378.1:p.Ala255Thr
  • LRG_671t1:c.763G>A
  • LRG_671:g.7532G>A
  • LRG_671p1:p.Ala255Thr
  • NC_000005.9:g.172659784C>T
  • NM_004387.4:c.763G>A
Protein change:
A255T
Links:
dbSNP: rs759518211
NCBI 1000 Genomes Browser:
rs759518211
Molecular consequence:
  • NM_001166175.2:c.*716G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166176.2:c.*562G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004387.4:c.763G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004046527New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)
Uncertain significance
(Feb 24, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV004046527.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024