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NM_000023.4(SGCA):c.528C>T (p.Thr176=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000130293.10
Variation ID:
130293
Description:
single nucleotide variant
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NM_000023.4(SGCA):c.528C>T (p.Thr176=)

Allele ID
135740
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.33
Genomic location
17: 50168516 (GRCh38) GRCh38 UCSC
17: 48245877 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_203:g.7512C>T
LRG_203t1:c.528C>T
NC_000017.10:g.48245877C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:50168515:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01098 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00862
The Genome Aggregation Database (gnomAD) 0.00845
The Genome Aggregation Database (gnomAD), exomes 0.00277
Exome Aggregation Consortium (ExAC) 0.00725
Trans-Omics for Precision Medicine (TOPMed) 0.00922
1000 Genomes Project 0.01098
Links
ClinGen: CA155174
dbSNP: rs1801190
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Jan 10, 2017 RCV000118331.6
Benign 2 criteria provided, multiple submitters, no conflicts Dec 7, 2020 RCV000341013.9
Benign 1 criteria provided, single submitter Sep 21, 2017 RCV000713238.5
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV001094487.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SGCA - - GRCh38
GRCh37
406 419

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Sarcoglycanopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000403949.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jun 23, 2020)
criteria provided, single submitter
Method: clinical testing
Autosomal recessive limb-girdle muscular dystrophy type 2D
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000884506.3
Submitted: (Dec 11, 2020)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000301550.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 10, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000534385.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Sep 21, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000843824.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Autosomal recessive limb-girdle muscular dystrophy type 2D
Allele origin: germline
Invitae
Accession: SCV000649774.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000152719.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). Carrié A Journal of medical genetics 1997 PMID: 9192266

Text-mined citations for rs1801190...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 11, 2021