U.S. flag

An official website of the United States government

NM_000231.3(SGCG):c.95G>A (p.Arg32Lys) AND Autosomal recessive limb-girdle muscular dystrophy type 2C

Germline classification:
Uncertain significance (1 submission)
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:
RCV003326231.2

Allele description [Variation Report for NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)]

NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)

Gene:
SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)
HGVS:
  • NC_000013.11:g.23203789G>A
  • NG_008759.1:g.27869G>A
  • NM_000231.3:c.95G>AMANE SELECT
  • NM_001378244.1:c.149G>A
  • NM_001378245.1:c.95G>A
  • NM_001378246.1:c.95G>A
  • NP_000222.1:p.Arg32Lys
  • NP_000222.2:p.Arg32Lys
  • NP_001365173.1:p.Arg50Lys
  • NP_001365174.1:p.Arg32Lys
  • NP_001365175.1:p.Arg32Lys
  • LRG_207t1:c.95G>A
  • LRG_207:g.27869G>A
  • LRG_207p1:p.Arg32Lys
  • NC_000013.10:g.23777928G>A
  • NM_000231.2:c.95G>A
Protein change:
R32K
Molecular consequence:
  • NM_000231.3:c.95G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378244.1:c.149G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378245.1:c.95G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378246.1:c.95G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMDR5)
Synonyms:
Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Muscular dystrophy, Duchenne-like; Duchenne-like muscular dystrophy, autosomal recessive, type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009677; MedGen: C0410173; Orphanet: 353; OMIM: 253700

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
SCV004032331Institute of Human Genetics, University of Wuerzburg
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV004032331.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2023