NM_000257.4(MYH7):c.4823G>A (p.Arg1608His) AND Dilated cardiomyopathy 1S

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001594458.2

Allele description [Variation Report for NM_000257.4(MYH7):c.4823G>A (p.Arg1608His)]

NM_000257.4(MYH7):c.4823G>A (p.Arg1608His)

Genes:

LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.4823G>A (p.Arg1608His)

HGVS:

NC_000014.9:g.23416134C>T
NG_007884.1:g.24528G>A
NM_000257.4:c.4823G>AMANE SELECT
NP_000248.2:p.Arg1608His
LRG_384t1:c.4823G>A
LRG_384:g.24528G>A
NC_000014.8:g.23885343C>T
NM_000257.2:c.4823G>A
NM_000257.3:c.4823G>A
NR_126491.1:n.395C>T

Protein change:

R1608H

Links:

dbSNP: rs587779391

NCBI 1000 Genomes Browser:

rs587779391

Molecular consequence:

NM_000257.4:c.4823G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_126491.1:n.395C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dilated cardiomyopathy 1S (CMD1S)
Identifiers:: MONDO: MONDO:0013262; MedGen: C1834481; Orphanet: 154; Orphanet: 54260; OMIM: 613426

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001499968	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

SCV001499968

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

Citations

PubMed

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 KTest Genetics, KTest, SCV001499968.1

#	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: Oct 20, 2024

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