U.S. flag

An official website of the United States government

NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) AND Distal arthrogryposis type 2B1

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001118118.4

Allele description [Variation Report for NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln)]

NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln)

Gene:
MYH3:myosin heavy chain 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln)
HGVS:
  • NC_000017.11:g.10638327C>G
  • NG_011537.1:g.23972G>C
  • NM_002470.4:c.3445G>CMANE SELECT
  • NP_002461.2:p.Glu1149Gln
  • NC_000017.10:g.10541644C>G
  • NC_000017.10:g.10541644C>G
  • NM_002470.3:c.3445G>C
Protein change:
E1149Q
Links:
dbSNP: rs145785711
NCBI 1000 Genomes Browser:
rs145785711
Molecular consequence:
  • NM_002470.4:c.3445G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Distal arthrogryposis type 2B1 (DA2B1)
Synonyms:
Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities
Identifiers:
MONDO: MONDO:0020820; MedGen: C5193014; Orphanet: 1147; OMIM: 601680

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001276381Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 27, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.

Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB.

Clin Orthop Relat Res. 2009 May;467(5):1195-200. doi: 10.1007/s11999-008-0694-5. Epub 2009 Jan 14.

PubMed [citation]
PMID:
19142688
PMCID:
PMC2664426

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001276381.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024