NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) AND not specified

Germline classification:: Benign (4 submissions)
Last evaluated:: Sep 25, 2013
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:: RCV000126945.21

Allele description [Variation Report for NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)]

NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)

Genes:

MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

Preferred name:

NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)

Other names:

p.V1289A:GTT>GCT

HGVS:

NC_000016.10:g.15724985A>G
NG_009299.1:g.137046T>C
NG_021210.1:g.86719A>G
NM_001040113.2:c.3887T>C
NM_001040114.2:c.3887T>C
NM_001143979.2:c.*734A>G
NM_002474.3:c.3866T>CMANE SELECT
NM_017668.3:c.*734A>GMANE SELECT
NM_022844.3:c.3866T>C
NP_001035202.1:p.Val1296Ala
NP_001035203.1:p.Val1296Ala
NP_001035203.1:p.Val1296Ala
NP_002465.1:p.Val1289Ala
NP_074035.1:p.Val1289Ala
LRG_1401t1:c.3866T>C
LRG_1401t2:c.3887T>C
LRG_1401:g.137046T>C
LRG_1401p1:p.Val1289Ala
LRG_1401p2:p.Val1296Ala
NC_000016.9:g.15818842A>G
NM_001040113.1:c.3887T>C
NM_001040114.1:c.3887T>C
NM_001143979.1:c.*734A>G
NM_002474.2:c.3866T>C
P35749:p.Val1289Ala

Protein change:

V1289A

Links:

UniProtKB: P35749#VAR_030240; dbSNP: rs16967510

NCBI 1000 Genomes Browser:

rs16967510

Molecular consequence:

NM_001143979.2:c.*734A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_017668.3:c.*734A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001040113.2:c.3887T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001040114.2:c.3887T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002474.3:c.3866T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022844.3:c.3866T>C - 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
SCV000170476	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Sep 25, 2013)	germline	clinical testing	Citation Link,
SCV000269267	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Apr 4, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000306183	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001971516	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

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	4	4	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	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

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 GeneDx, SCV000170476.11

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000269267.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (1)

Description

Val1296Ala in exon 30 of MYH11: This variant is not expected to have clinical si gnificance because it has been identified in 6.5% (560/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs16967510).

#	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		4	not provided	4	not provided

From PreventionGenetics, part of Exact Sciences, SCV000306183.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001971516.1

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

Last Updated: Jun 9, 2024

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