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NM_001103.4(ACTN2):c.186C>T (p.Ile62=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 19, 2020
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:
RCV002408507.2

Allele description [Variation Report for NM_001103.4(ACTN2):c.186C>T (p.Ile62=)]

NM_001103.4(ACTN2):c.186C>T (p.Ile62=)

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.186C>T (p.Ile62=)
HGVS:
  • NC_000001.11:g.236717917C>T
  • NG_009081.2:g.58777C>T
  • NM_001103.4:c.186C>TMANE SELECT
  • NM_001278343.2:c.186C>T
  • NM_001278344.2:c.-636C>T
  • NP_001094.1:p.Ile62=
  • NP_001094.1:p.Ile62=
  • NP_001265272.1:p.Ile62=
  • LRG_436t1:c.186C>T
  • LRG_436:g.58777C>T
  • LRG_436p1:p.Ile62=
  • NC_000001.10:g.236881217C>T
  • NG_009081.1:g.36448C>T
  • NM_001103.2:c.186C>T
  • NM_001103.3:c.186C>T
  • c.186C>T
  • p.Ile62Ile
Links:
dbSNP: rs34403480
NCBI 1000 Genomes Browser:
rs34403480
Molecular consequence:
  • NM_001278344.2:c.-636C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001103.4:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278343.2:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002721058Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 19, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780

Details of each submission

From Ambry Genetics, SCV002721058.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

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: Sep 29, 2024