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NM_000231.3(SGCG):c.721del (p.Thr241fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2C

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 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:
RCV000669602.1

Allele description [Variation Report for NM_000231.3(SGCG):c.721del (p.Thr241fs)]

NM_000231.3(SGCG):c.721del (p.Thr241fs)

Gene:
SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_000231.3(SGCG):c.721del (p.Thr241fs)
HGVS:
  • NC_000013.11:g.23324386del
  • NG_008759.1:g.148466del
  • NM_000231.3:c.721delMANE SELECT
  • NM_001378244.1:c.775del
  • NM_001378245.1:c.721del
  • NM_001378246.1:c.721del
  • NP_000222.2:p.Thr241fs
  • NP_001365173.1:p.Thr259fs
  • NP_001365174.1:p.Thr241fs
  • NP_001365175.1:p.Thr241fs
  • LRG_207:g.148466del
  • NC_000013.10:g.23898525del
  • NM_000231.2:c.721delA
Protein change:
T241fs
Links:
dbSNP: rs1555248289
NCBI 1000 Genomes Browser:
rs1555248289
Molecular consequence:
  • NM_000231.3:c.721del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378244.1:c.775del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378245.1:c.721del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001378246.1:c.721del - 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
SCV000794372Counsyl
criteria provided, single submitter

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

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.

Soheili T, Gicquel E, Poupiot J, N'Guyen L, Le Roy F, Bartoli M, Richard I.

Hum Mutat. 2012 Feb;33(2):429-39. doi: 10.1002/humu.21659. Epub 2011 Dec 22.

PubMed [citation]
PMID:
22095924

Details of each submission

From Counsyl, SCV000794372.1

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

Last Updated: Aug 5, 2023