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NM_000337.6(SGCD):c.*2A>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 27, 2021)
Last evaluated:
Sep 26, 2018
Accession:
VCV000043355.5
Variation ID:
43355
Description:
single nucleotide variant
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NM_000337.6(SGCD):c.*2A>C

Allele ID
52525
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q33.3
Genomic location
5: 156759392 (GRCh38) GRCh38 UCSC
5: 156186403 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.156186403A>C
NM_000337.5:c.*2A>C 3 prime UTR
LRG_205:g.894050A>C
... more HGVS
Protein change
-
Other names
c.*2A>C
Canonical SPDI
NC_000005.10:156759391:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00071
The Genome Aggregation Database (gnomAD) 0.00182
Trans-Omics for Precision Medicine (TOPMed) 0.00304
The Genome Aggregation Database (gnomAD), exomes 0.00050
1000 Genomes Project 0.00280
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00273
Links
ClinGen: CA132468
dbSNP: rs200757725
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 20, 2013 RCV000036263.9
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 26, 2018 RCV000992964.2
Likely benign 1 criteria provided, single submitter Jul 12, 2017 RCV000770209.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SGCD - - GRCh38
GRCh37
492 508

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001942424.1
Submitted: (Sep 27, 2021)
Evidence details
Likely benign
(Sep 26, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001145590.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(May 20, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000110519.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jul 12, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000901639.1
Submitted: (Apr 30, 2018)
Evidence details
Likely benign
(Mar 19, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059915.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
*2A>C in exon 9 of SGCD: This variant is not expected to have clinical significa nce because it has been identified in 0.8% (24/3134) of … (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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SGCD - - - -

Text-mined citations for rs200757725...

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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 Oct 30, 2021