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NM_014140.3(SMARCAL1):c.-200G>A

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Apr 27, 2017
Accession:
VCV000334281.2
Variation ID:
334281
Description:
single nucleotide variant
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NM_014140.3(SMARCAL1):c.-200G>A

Allele ID
287743
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 216412544 (GRCh38) GRCh38 UCSC
2: 217277267 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_108t1:c.-200G>A
LRG_108:g.5131G>A
NG_060930.1:g.399G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:216412543:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01777 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.02059
1000 Genomes Project 0.01777
The Genome Aggregation Database (gnomAD) 0.01889
Links
ClinGen: CA10614264
dbSNP: rs79352134
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000304414.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMARCAL1 - - GRCh38
GRCh37
465 488

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Schimke immuno-osseous dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000427326.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
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, … (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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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 rs79352134...

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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 08, 2021