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NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 5, 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:
RCV002421964.2

Allele description [Variation Report for NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)]

NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)

Gene:
ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)
HGVS:
  • NC_000001.11:g.236755104_236755105delinsCA
  • NG_009081.2:g.95964_95965delinsCA
  • NM_001103.4:c.2060_2061delinsCAMANE SELECT
  • NM_001278343.2:c.2060_2061delinsCA
  • NM_001278344.2:c.1436_1437delinsCA
  • NM_001412150.1:c.1310_1311delACinsCA
  • NP_001094.1:p.Asn687Thr
  • NP_001265272.1:p.Asn687Thr
  • NP_001265273.1:p.Asn479Thr
  • NP_001399079.1:p.Asn437Thr
  • LRG_436t1:c.2060_2061delinsCA
  • LRG_436:g.95964_95965delinsCA
  • LRG_436p1:p.Asn687Thr
  • NC_000001.10:g.236918404_236918405delinsCA
  • NM_001103.2:c.2060_2061delACinsCA
Protein change:
N437T
Molecular consequence:
  • NM_001103.4:c.2060_2061delinsCA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278343.2:c.2060_2061delinsCA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278344.2:c.1436_1437delinsCA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001412150.1:c.1310_1311delACinsCA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002724775Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 5, 2022) 		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, SCV002724775.2

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

Description

The c.2060_2061delACinsCA variant (also known as p.N687T), located in coding exon 17 of the ACTN2 gene, results from an in-frame deletion of AC and insertion of CA at nucleotide positions 2060 to 2061. This results in the substitution of the asparagine residue for a threonine residue at codon 687, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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: Sep 29, 2024