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NM_004387.4(NKX2-5):c.126G>T (p.Ala42=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 27, 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:
RCV002376148.2

Allele description [Variation Report for NM_004387.4(NKX2-5):c.126G>T (p.Ala42=)]

NM_004387.4(NKX2-5):c.126G>T (p.Ala42=)

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.126G>T (p.Ala42=)
HGVS:
  • NC_000005.10:g.173234958C>A
  • NG_013340.1:g.5355G>T
  • NM_001166175.2:c.126G>T
  • NM_001166176.2:c.126G>T
  • NM_004387.4:c.126G>TMANE SELECT
  • NP_001159647.1:p.Ala42=
  • NP_001159648.1:p.Ala42=
  • NP_004378.1:p.Ala42=
  • LRG_671t1:c.126G>T
  • LRG_671:g.5355G>T
  • LRG_671p1:p.Ala42=
  • NC_000005.9:g.172661961C>A
  • NM_004387.3:c.126G>T
Molecular consequence:
  • NM_001166175.2:c.126G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001166176.2:c.126G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004387.4:c.126G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002687557Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 27, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002687557.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024