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NM_000231.3(SGCG):c.591dup (p.Thr198fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2C

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 7, 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:
RCV000668598.1

Allele description [Variation Report for NM_000231.3(SGCG):c.591dup (p.Thr198fs)]

NM_000231.3(SGCG):c.591dup (p.Thr198fs)

Gene:
SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_000231.3(SGCG):c.591dup (p.Thr198fs)
HGVS:
  • NC_000013.11:g.23320649dup
  • NG_008759.1:g.144729dup
  • NM_000231.3:c.591dupMANE SELECT
  • NM_001378244.1:c.645dup
  • NM_001378245.1:c.591dup
  • NM_001378246.1:c.591dup
  • NP_000222.2:p.Thr198fs
  • NP_001365173.1:p.Thr216fs
  • NP_001365174.1:p.Thr198fs
  • NP_001365175.1:p.Thr198fs
  • LRG_207:g.144729dup
  • NC_000013.10:g.23894788dup
  • NM_000231.2:c.591dupC
Protein change:
T198fs
Links:
dbSNP: rs1555247973
NCBI 1000 Genomes Browser:
rs1555247973
Molecular consequence:
  • NM_000231.3:c.591dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378244.1:c.645dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378245.1:c.591dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378246.1:c.591dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000793227Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Likely pathogenic
(Aug 7, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000793227.1

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

Last Updated: Aug 5, 2023