NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) AND Autosomal recessive limb-girdle muscular dystrophy type 2D

Clinical significance:Benign (Last evaluated: Dec 5, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000530608.6

Allele description [Variation Report for NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)]

NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)

Gene:
SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)
HGVS:
  • NC_000017.11:g.50175393C>T
  • NG_008889.1:g.14389C>T
  • NM_000023.4:c.1120C>TMANE SELECT
  • NM_001135697.3:c.748C>T
  • NP_000014.1:p.Arg374Cys
  • NP_000014.1:p.Arg374Cys
  • NP_001129169.1:p.Arg250Cys
  • LRG_203t1:c.1120C>T
  • LRG_203:g.14389C>T
  • LRG_203p1:p.Arg374Cys
  • NC_000017.10:g.48252754C>T
  • NM_000023.2:c.1120C>T
  • NR_135553.2:n.947C>T
Protein change:
R250C
Links:
dbSNP: rs35495899
NCBI 1000 Genomes Browser:
rs35495899
Molecular consequence:
  • NM_000023.4:c.1120C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135697.3:c.748C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135553.2:n.947C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D)
Synonyms:
ADHALINOPATHY, PRIMARY; Limb-girdle muscular dystrophy, type 2D; Muscular dystrophy limb-girdle with alpha-sarcoglycan; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011968; MedGen: C2936332; Orphanet: 62; OMIM: 608099

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000649760Invitaecriteria provided, single submitter
Benign
(Dec 5, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001470960ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Mar 18, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000649760.5

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

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001470960.1

#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: Sep 12, 2021

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