NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg) AND Scapulohumeral muscular dystrophy

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000515687.1

Allele description [Variation Report for NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)]

NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)

Gene:
SMCHD1:structural maintenance of chromosomes flexible hinge domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.32
Genomic location:
Preferred name:
NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)
HGVS:
  • NC_000018.10:g.2743806G>C
  • NG_031972.1:g.92919G>C
  • NM_015295.3:c.3679G>CMANE SELECT
  • NP_056110.2:p.Gly1227Arg
  • NC_000018.9:g.2743804G>C
  • NC_000018.9:g.2743804G>C
Protein change:
G1227R
Links:
dbSNP: rs1204021010
NCBI 1000 Genomes Browser:
rs1204021010
Molecular consequence:
  • NM_015295.3:c.3679G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Scapulohumeral muscular dystrophy
Identifiers:
MONDO: MONDO:0010884; MedGen: C0410192; Orphanet: 269; OMIM: 600416; Human Phenotype Ontology: HP:0008970

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000611844Institute of Human Genetics,University of Wuerzburgno assertion criteria providedLikely pathogenicunknownclinical testing

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics,University of Wuerzburg, SCV000611844.1

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

Last Updated: Oct 25, 2021

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