NM_001103.4(ACTN2):c.2656T>C (p.Ser886Pro) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 20, 2021
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:: RCV002453102.2

Allele description [Variation Report for NM_001103.4(ACTN2):c.2656T>C (p.Ser886Pro)]

NM_001103.4(ACTN2):c.2656T>C (p.Ser886Pro)

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.2656T>C (p.Ser886Pro)

HGVS:

NC_000001.11:g.236762590T>C
NG_009081.2:g.103450T>C
NM_001103.4:c.2656T>CMANE SELECT
NM_001278343.2:c.2656T>C
NM_001278344.2:c.2032T>C
NM_001412150.1:c.1906T>C
NP_001094.1:p.Ser886Pro
NP_001265272.1:p.Ser886Pro
NP_001265273.1:p.Ser678Pro
NP_001399079.1:p.Ser636Pro
LRG_436t1:c.2656T>C
LRG_436:g.103450T>C
LRG_436p1:p.Ser886Pro
NC_000001.10:g.236925890T>C
NM_001103.2:c.2656T>C

Protein change:

S636P

Molecular consequence:

NM_001103.4:c.2656T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001278343.2:c.2656T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001278344.2:c.2032T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001412150.1:c.1906T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002739870	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 20, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002739870

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 20, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002739870.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.S886P variant (also known as c.2656T>C), located in coding exon 21 of the ACTN2 gene, results from a T to C substitution at nucleotide position 2656. The serine at codon 886 is replaced by proline, 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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