NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp) AND Dilated cardiomyopathy 1S

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2016
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:: RCV000415697.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)]

NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)

Gene:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)

HGVS:

NC_000014.9:g.23419284G>A
NG_007884.1:g.21378C>T
NM_000257.4:c.3865C>TMANE SELECT
NP_000248.2:p.Arg1289Trp
LRG_384t1:c.3865C>T
LRG_384:g.21378C>T
NC_000014.8:g.23888493G>A
NM_000257.2:c.3865C>T
NM_000257.3:c.3865C>T

Protein change:

R1289W

Links:

dbSNP: rs180824037

NCBI 1000 Genomes Browser:

rs180824037

Molecular consequence:

NM_000257.4:c.3865C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000493770	Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen	no assertion criteria provided (ACMG Guidelines, 2015)	Uncertain significance (Mar 30, 2016)	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

SCV000493770

Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen

no assertion criteria provided

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 30, 2016)

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	no	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 Knight Diagnostic Laboratories, Oregon Health and Sciences University - CSER-NextGen, SCV000493770.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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