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NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 1, 2017)
Last evaluated:
Jun 26, 2017
Accession:
VCV000495338.1
Variation ID:
495338
Description:
single nucleotide variant
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NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp)

Allele ID
486833
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 216475314 (GRCh38) GRCh38 UCSC
2: 217340037 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.217340037C>T
NC_000002.12:g.216475314C>T
NM_001127207.2:c.2290C>T NP_001120679.1:p.Arg764Trp missense
... more HGVS
Protein change
R764W
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA350503975
dbSNP: rs1480919035
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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 Jun 26, 2017 RCV000586742.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMARCAL1 - - GRCh38
GRCh37
172 189

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 26, 2017)
criteria provided, single submitter
Method: research
Schimke immunoosseous dysplasia
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group,Broad Institute
Study: Broad Institute Center for Mendelian Genomics (CMG)
Accession: SCV000693913.1
Submitted: (Jul 01, 2017)
Evidence details
Comment:
No reports in the literature identified for this variant. Seen as homozygous variant in 1 case in CMG with nephrotic syndrome. PM2: rare in reference ... (more)

Citations for this variant

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

Record last updated Nov 01, 2019