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NM_001103.4(ACTN2):c.2658C>T (p.Ser886=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 19, 2023
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:
RCV000242036.3

Allele description [Variation Report for NM_001103.4(ACTN2):c.2658C>T (p.Ser886=)]

NM_001103.4(ACTN2):c.2658C>T (p.Ser886=)

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.2658C>T (p.Ser886=)
HGVS:
  • NC_000001.11:g.236762592C>T
  • NG_009081.2:g.103452C>T
  • NM_001103.4:c.2658C>TMANE SELECT
  • NM_001278343.2:c.2658C>T
  • NM_001278344.2:c.2034C>T
  • NP_001094.1:p.Ser886=
  • NP_001094.1:p.Ser886=
  • NP_001265272.1:p.Ser886=
  • NP_001265273.1:p.Ser678=
  • LRG_436t1:c.2658C>T
  • LRG_436:g.103452C>T
  • LRG_436p1:p.Ser886=
  • NC_000001.10:g.236925892C>T
  • NG_009081.1:g.81123C>T
  • NM_001103.2:c.2658C>T
  • NM_001103.3:c.2658C>T
Links:
dbSNP: rs143297401
NCBI 1000 Genomes Browser:
rs143297401
Molecular consequence:
  • NM_001103.4:c.2658C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278343.2:c.2658C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278344.2:c.2034C>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
SCV000318574Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 19, 2023) 		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, SCV000318574.7

#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: Sep 29, 2024