NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) AND not specified

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jun 7, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000310107.8

Allele description [Variation Report for NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)]

NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)

Gene:

MYH14:myosin heavy chain 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)

HGVS:

NC_000019.10:g.50261482C>T
NG_011645.1:g.62855C>T
NM_001077186.2:c.2333C>T
NM_001145809.2:c.2432C>TMANE SELECT
NM_024729.4:c.2309C>T
NP_001070654.1:p.Ala778Val
NP_001139281.1:p.Ala811Val
NP_079005.3:p.Ala770Val
NP_079005.3:p.Ala770Val
NC_000019.9:g.50764739C>T
NM_001145809.1:c.2432C>T
NM_024729.3:c.2309C>T
p.Ala811Val

Protein change:

A770V

Links:

dbSNP: rs201337011

NCBI 1000 Genomes Browser:

rs201337011

Molecular consequence:

NM_001077186.2:c.2333C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001145809.2:c.2432C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024729.4:c.2309C>T - 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
SCV000341413	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Jun 7, 2016)	germline	clinical testing	Citation Link,
SCV000966467	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Apr 30, 2012)	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

SCV000341413

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Jun 7, 2016)

germline

clinical testing

Citation Link,

SCV000966467

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Apr 30, 2012)

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
not provided	germline	unknown	1	not provided	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 Eurofins Ntd Llc (ga), SCV000341413.4

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

#	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		1	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000966467.1

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

Description

Ala811Val in Exon 21 of MYH14: This variant is not expected to have clinical sig nificance because it has been identified in 0.6% (18/3216) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS).

#	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: Oct 13, 2024

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