NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 17, 2014
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:: RCV000151217.4

Allele description [Variation Report for NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)]

NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)

Gene:

MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)

HGVS:

NC_000014.9:g.23390281C>T
NG_023444.1:g.22997G>A
NM_002471.4:c.3508G>AMANE SELECT
NP_002462.2:p.Glu1170Lys
NP_002462.2:p.Glu1170Lys
LRG_389t1:c.3508G>A
LRG_389:g.22997G>A
LRG_389p1:p.Glu1170Lys
NC_000014.8:g.23859490C>T
NM_002471.3:c.3508G>A

Protein change:

E1170K

Links:

dbSNP: rs727503236

NCBI 1000 Genomes Browser:

rs727503236

Molecular consequence:

NM_002471.4:c.3508G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000199061	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Feb 17, 2014)	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

SCV000199061

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Feb 17, 2014)

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	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000199061.4

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

Description

The Glu1170Lys variant in MYH6 has not been previously reported in individuals w ith cardiomyopathy and data from large population studies is insufficient to det ermine its frequency. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen-2, and SIFT) suggest this variant may impact the protein, though this information is not predictive enough to determine patho genicity. Additional information is needed to fully assess the clinical signific ance of this variant.

#	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		1	not provided	1	not provided

Last Updated: Mar 16, 2024

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