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NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 20, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000477924.2

Allele description [Variation Report for NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)]

NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)

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.2197G>A (p.Gly733Arg)
HGVS:
  • NC_000021.9:g.46126012G>A
  • NG_008675.1:g.32894G>A
  • NM_001849.4:c.2197G>AMANE SELECT
  • NM_058174.3:c.2197G>A
  • NM_058175.3:c.2197G>A
  • NP_001840.3:p.Gly733Arg
  • NP_001840.3:p.Gly733Arg
  • NP_478054.2:p.Gly733Arg
  • NP_478055.2:p.Gly733Arg
  • LRG_476t1:c.2197G>A
  • LRG_476:g.32894G>A
  • LRG_476p1:p.Gly733Arg
  • NC_000021.8:g.47545926G>A
  • NM_001849.3:c.2197G>A
Protein change:
G733R
Links:
dbSNP: rs886042922
NCBI 1000 Genomes Browser:
rs886042922
Molecular consequence:
  • NM_001849.4:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058174.3:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058175.3:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bethlem myopathy 1A
Synonyms:
Myopathy, benign congenital, with contractures; Bethlem myopathy 1
Identifiers:
MONDO: MONDO:0024530; MedGen: CN029274; Orphanet: 610; OMIM: 158810
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
Name:
Myosclerosis
Synonyms:
MYOPATHY, MYOSCLEROTIC; MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL; Myosclerosis, autosomal recessive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009714; MedGen: C1850671; Orphanet: 289380; OMIM: 255600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536776Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no assertion criteria provided
Uncertain significance
(Jun 20, 2015) 		paternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536776.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024