NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) AND Sarcoglycanopathy

Clinical significance:Likely benign (Last evaluated: Jan 24, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001122688.1

Allele description [Variation Report for NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)]

NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)

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.421C>A (p.Arg141Ser)
HGVS:
  • NC_000017.11:g.50168409C>A
  • NG_008889.1:g.7405C>A
  • NM_000023.4:c.421C>AMANE SELECT
  • NM_001135697.3:c.421C>A
  • NP_000014.1:p.Arg141Ser
  • NP_001129169.1:p.Arg141Ser
  • LRG_203t1:c.421C>A
  • LRG_203:g.7405C>A
  • NC_000017.10:g.48245770C>A
  • NM_000023.2:c.421C>A
  • NM_000023.3:c.421C>A
  • NR_135553.2:n.457C>A
Protein change:
R141S
Links:
dbSNP: rs35130237
NCBI 1000 Genomes Browser:
rs35130237
Molecular consequence:
  • NM_000023.4:c.421C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135697.3:c.421C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135553.2:n.457C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Sarcoglycanopathy
Identifiers:
MONDO: MONDO:0016140; MedGen: C2936331

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001281434Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jan 24, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Novel sarcoglycan gene mutations in a large cohort of Italian patients.

Boito C, Fanin M, Siciliano G, Angelini C, Pegoraro E.

J Med Genet. 2003 May;40(5):e67. No abstract available.

PubMed [citation]
PMID:
12746421
PMCID:
PMC1735456

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J.

Eur J Hum Genet. 2008 Jul;16(7):793-803. doi: 10.1038/ejhg.2008.9. Epub 2008 Feb 20.

PubMed [citation]
PMID:
18285821

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001281434.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 25, 2021

Support Center