U.S. flag

An official website of the United States government

NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) AND Ullrich congenital muscular dystrophy 1A

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 30, 2021
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:
RCV001664320.10

Allele description [Variation Report for NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)]

NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)

Gene:
COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
HGVS:
  • NC_000021.9:g.46125854G>A
  • NG_008675.1:g.32736G>A
  • NM_001849.4:c.2039G>AMANE SELECT
  • NM_058174.3:c.2039G>A
  • NM_058175.3:c.2039G>A
  • NP_001840.3:p.Arg680His
  • NP_478054.2:p.Arg680His
  • NP_478055.2:p.Arg680His
  • LRG_476t1:c.2039G>A
  • LRG_476:g.32736G>A
  • LRG_476p1:p.Arg680His
  • NC_000021.8:g.47545768G>A
  • NM_001849.3:c.2039G>A
  • P12110:p.Arg680His
Protein change:
R680H
Links:
UniProtKB: P12110#VAR_030316; dbSNP: rs1042917
NCBI 1000 Genomes Browser:
rs1042917
Molecular consequence:
  • NM_001849.4:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058174.3:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058175.3:c.2039G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ullrich congenital muscular dystrophy 1A
Synonyms:
Late onset scleroatonic familial myopathy (subtype); Ullrich congenital muscular dystrophy 1
Identifiers:
MONDO: MONDO:0009681; MedGen: C0410179; Orphanet: 75840; OMIM: 254090

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
SCV001875878Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 30, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV001875878.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024