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NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 3, 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:
RCV002431051.2

Allele description [Variation Report for NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser)]

NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser)

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.249G>C (p.Arg83Ser)
HGVS:
  • NC_000001.11:g.236718901G>C
  • NG_009081.2:g.59761G>C
  • NM_001103.4:c.249G>CMANE SELECT
  • NM_001278343.2:c.249G>C
  • NM_001278344.2:c.-573G>C
  • NM_001412150.1:c.-698G>C
  • NP_001094.1:p.Arg83Ser
  • NP_001265272.1:p.Arg83Ser
  • LRG_436t1:c.249G>C
  • LRG_436:g.59761G>C
  • LRG_436p1:p.Arg83Ser
  • NC_000001.10:g.236882201G>C
  • NM_001103.2:c.249G>C
Protein change:
R83S
Molecular consequence:
  • NM_001278344.2:c.-573G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001103.4:c.249G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278343.2:c.249G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002741879Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 3, 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, SCV002741879.2

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

Description

The p.R83S variant (also known as c.249G>C), located in coding exon 3 of the ACTN2 gene, results from a G to C substitution at nucleotide position 249. The arginine at codon 83 is replaced by serine, an amino acid with dissimilar 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: Sep 29, 2024