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NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2018
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:
RCV001267014.2

Allele description [Variation Report for NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)]

NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
HGVS:
  • NC_000004.12:g.52029836G>A
  • NG_008891.1:g.13484C>T
  • NM_000232.5:c.271C>TMANE SELECT
  • NP_000223.1:p.Arg91Cys
  • NP_000223.1:p.Arg91Cys
  • LRG_204t1:c.271C>T
  • LRG_204:g.13484C>T
  • LRG_204p1:p.Arg91Cys
  • NC_000004.11:g.52896002G>A
  • NM_000232.4:c.271C>T
Protein change:
R91C
Links:
dbSNP: rs555514820
NCBI 1000 Genomes Browser:
rs555514820
Molecular consequence:
  • NM_000232.5:c.271C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001445195Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Pathogenic
(Feb 1, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.

Duclos F, Broux O, Bourg N, Straub V, Feldman GL, Sunada Y, Lim LE, Piccolo F, Cutshall S, Gary F, Quetier F, Kaplan JC, Jackson CE, Beckmann JS, Campbell KP.

Neuromuscul Disord. 1998 Feb;8(1):30-8.

PubMed [citation]
PMID:
9565988

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 Ambry Genetics, SCV001445195.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 17, 2024