U.S. flag

An official website of the United States government

NM_001103.4(ACTN2):c.1415A>G (p.Asp472Gly) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 2022
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:
RCV002391675.2

Allele description [Variation Report for NM_001103.4(ACTN2):c.1415A>G (p.Asp472Gly)]

NM_001103.4(ACTN2):c.1415A>G (p.Asp472Gly)

Gene:
ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001103.4(ACTN2):c.1415A>G (p.Asp472Gly)
HGVS:
  • NC_000001.11:g.236747675A>G
  • NG_009081.2:g.88535A>G
  • NM_001103.4:c.1415A>GMANE SELECT
  • NM_001278343.2:c.1415A>G
  • NM_001278344.2:c.791A>G
  • NM_001412150.1:c.665A>G
  • NP_001094.1:p.Asp472Gly
  • NP_001265272.1:p.Asp472Gly
  • NP_001265273.1:p.Asp264Gly
  • NP_001399079.1:p.Asp222Gly
  • LRG_436t1:c.1415A>G
  • LRG_436:g.88535A>G
  • LRG_436p1:p.Asp472Gly
  • NC_000001.10:g.236910975A>G
  • NM_001103.2:c.1415A>G
Protein change:
D222G
Molecular consequence:
  • NM_001103.4:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278343.2:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278344.2:c.791A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001412150.1:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002702956Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 17, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002702956.2

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

Description

The p.D472G variant (also known as c.1415A>G), located in coding exon 13 of the ACTN2 gene, results from an A to G substitution at nucleotide position 1415. The aspartic acid at codon 472 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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.

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

Last Updated: May 1, 2024