NM_000232.4(SGCB):c.452C>G (p.Thr151Arg)

Variation ID: Help
8712
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Feb 20, 2015
Number of submission(s):
2
Condition(s):
Limb-girdle muscular dystrophy, type 2E[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000232.4(SGCB):c.452C>G (p.Thr151Arg)

Allele ID:
23751
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
  • Chr4: 52028899 (on Assembly GRCh38)
  • Chr4: 52895065 (on Assembly GRCh37)
Protein change:
T151R
HGVS:
  • NG_008891.1:g.14421C>G
  • NM_000232.4:c.452C>G
  • NC_000004.12:g.52028899G>C (GRCh38)
  • NP_000223.1:p.Thr151Arg
  • LRG_204t1:c.452C>G
  • NC_000004.11:g.52895065G>C (GRCh37)
  • LRG_204p1:p.Thr151Arg
  • LRG_204:g.14421C>G
Links:
NCBI 1000 Genomes Browser:
rs28936383
Molecular consequence:
NM_000232.4:c.452C>G: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_000232.4(SGCB):c.452C>G (p.Thr151Arg)

GRCh37 Chr4:52895065
Called variantsPotential variants
Sample countno data0 of 40840

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Feb 20, 2015)
criteria provided, single submitter
(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))
literature only
  • Limb-girdle muscular dystrophy, type 2E (Autosomal recessive inheritance)[MedGen | Orphanet | OMIM]
unknownCounsylSCV000221145.1
Pathogenic
(Nov 1, 1995)
no assertion criteria providedliterature onlygermlineOMIMSCV000029468.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, unknownnot providednot provided
Counsylnot providednot providedunknownnot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 14, 2016