NM_005159.5(ACTC1):c.941G>A (p.Arg314His) AND Dilated cardiomyopathy 1R

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Aug 24, 2018
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:: RCV000019988.28

Allele description [Variation Report for NM_005159.5(ACTC1):c.941G>A (p.Arg314His)]

NM_005159.5(ACTC1):c.941G>A (p.Arg314His)

Genes:

GJD2-DT:GJD2 divergent transcript [Gene - HGNC]
ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q14

Genomic location:

Preferred name:

NM_005159.5(ACTC1):c.941G>A (p.Arg314His)

Other names:

R312H

HGVS:

NC_000015.10:g.34791163C>T
NG_007553.1:g.9564G>A
NM_005159.5:c.941G>AMANE SELECT
NP_005150.1:p.Arg314His
LRG_388t1:c.941G>A
LRG_388:g.9564G>A
LRG_388p1:p.Arg314His
NC_000015.9:g.35083364C>T
NM_005159.4:c.941G>A
P68032:p.Arg314His

Protein change:

R314H; ARG312HIS

Links:

UniProtKB: P68032#VAR_012860; OMIM: 102540.0001; dbSNP: rs121912673

NCBI 1000 Genomes Browser:

rs121912673

Molecular consequence:

NM_005159.5:c.941G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Dilated cardiomyopathy 1R (CMD1R)
Identifiers:: MONDO: MONDO:0013261; MedGen: C3150681; Orphanet: 154; Orphanet: 54260; OMIM: 613424

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040286	OMIM	no assertion criteria provided	Pathogenic (May 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000891768	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 24, 2018)	maternal	research	PubMed (1) [See all records that cite this PMID]
SCV001499950	KTest Genetics, KTest	no assertion criteria provided (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040286

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1998)

germline

literature only

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

SCV000891768

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 24, 2018)

maternal

research

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

SCV001499950

KTest Genetics, KTest

no assertion criteria provided

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	maternal	unknown	1	not provided	not provided	1	not provided	research

Citations

PubMed

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT.

Science. 1998 May 1;280(5364):750-2.

PubMed [citation]

PMID:: 9563954

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000040286.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 36-year-old mother and 2 daughters, aged 5 and 2 years, of German ancestry who had dilated cardiomyopathy (CMD1R; 613424), Olson et al. (1998) found a G-to-A substitution in codon 312 in exon 5 of the ACTC gene, resulting in an arg312-to-his (R312H) amino acid substitution. A 15-year-old son likewise had inherited the mutation but had not developed dilated cardiomyopathy.

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

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV000891768.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

Description

ACMG codes: PS3, PP3, PP5

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

From KTest Genetics, KTest, SCV001499950.1

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

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

Last Updated: Nov 3, 2024

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