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NM_014140.3(SMARCAL1):c.603G>C (p.Gly201=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000260345.4
Variation ID:
260345
Description:
single nucleotide variant
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NM_014140.3(SMARCAL1):c.603G>C (p.Gly201=)

Allele ID
250560
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 216415307 (GRCh38) GRCh38 UCSC
2: 217280030 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.217280030G>C
NC_000002.12:g.216415307G>C
NM_001127207.2:c.603G>C NP_001120679.1:p.Gly201= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:216415306:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00236
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00308
1000 Genomes Project 0.00260
The Genome Aggregation Database (gnomAD), exomes 0.00061
Exome Aggregation Consortium (ExAC) 0.00075
Trans-Omics for Precision Medicine (TOPMed) 0.00254
Links
ClinGen: CA2097620
dbSNP: rs35048226
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 - RCV000247782.1
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000638575.4
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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
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000312055.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Schimke immuno-osseous dysplasia
Allele origin: germline
Invitae
Accession: SCV000760104.4
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 rs35048226...

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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 Jun 23, 2021