NM_004369.3(COL6A3):c.6293G>T (p.Gly2098Val) AND Bethlem myopathy 1

Clinical significance:Pathogenic (Last evaluated: Sep 18, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000175313.1

Allele description [Variation Report for NM_004369.3(COL6A3):c.6293G>T (p.Gly2098Val)]

NM_004369.3(COL6A3):c.6293G>T (p.Gly2098Val)

Gene:
COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_004369.3(COL6A3):c.6293G>T (p.Gly2098Val)
HGVS:
  • NC_000002.12:g.237359378C>A
  • NG_008676.1:g.59830G>T
  • NM_004369.3:c.6293G>T
  • NP_004360.2:p.Gly2098Val
  • LRG_473t1:c.6293G>T
  • LRG_473:g.59830G>T
  • LRG_473p1:p.Gly2098Val
  • NC_000002.11:g.238268021C>A
Protein change:
G2098V
Links:
dbSNP: rs794727206
NCBI 1000 Genomes Browser:
rs794727206
Molecular consequence:
  • NM_004369.3:c.6293G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Bethlem myopathy 1 (BTHLM1)
Synonyms:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 5
Identifiers:
MedGen: CN029274; Orphanet: 610; OMIM: 158810

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226782EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Sep 18, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000226782.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 10, 2018