NM_000232.5(SGCB):c.*847T>C AND Limb-girdle muscular dystrophy, recessive

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000406619.5

Allele description [Variation Report for NM_000232.5(SGCB):c.*847T>C]

NM_000232.5(SGCB):c.*847T>C

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.*847T>C
HGVS:
  • NC_000004.12:g.52023110A>G
  • NG_008891.1:g.20210T>C
  • NG_053164.1:g.2202T>C
  • NM_000232.5:c.*847T>CMANE SELECT
  • LRG_204t1:c.*847T>C
  • LRG_204:g.20210T>C
  • NC_000004.11:g.52889276A>G
  • NM_000232.4:c.*847T>C
Links:
dbSNP: rs886059434
NCBI 1000 Genomes Browser:
rs886059434
Molecular consequence:
  • NM_000232.5:c.*847T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Limb-girdle muscular dystrophy, recessive
Identifiers:
MedGen: CN239352

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000449646Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000449646.2

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

Last Updated: Jun 29, 2024