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NM_006642.5(SDCCAG8):c.348C>T (p.His116=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000296907.5
Variation ID:
296907
Description:
single nucleotide variant
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NM_006642.5(SDCCAG8):c.348C>T (p.His116=)

Allele ID
281956
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q43
Genomic location
1: 243274584 (GRCh38) GRCh38 UCSC
1: 243437886 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.243437886C>T
NC_000001.10:g.243437886C>T
NC_000001.11:g.243274584C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:243274583:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00062
The Genome Aggregation Database (gnomAD), exomes 0.00074
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00045
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Exome Aggregation Consortium (ExAC) 0.00083
Links
ClinGen: CA1483285
dbSNP: rs143226730
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000282826.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000377375.2
Benign 1 criteria provided, single submitter Nov 27, 2020 RCV000872159.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDCCAG8 - - GRCh38
GRCh38
GRCh37
226 346

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome 16
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000356807.3
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)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Senior-Loken syndrome 7
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000356808.3
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
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Allele origin: germline
Invitae
Accession: SCV001013936.3
Submitted: (Jan 07, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs143226730...

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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 24, 2021