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NM_014140.4(SMARCAL1):c.1503del (p.Pro502fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 11, 2019
Accession:
VCV000937038.2
Variation ID:
937038
Description:
1bp deletion
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NM_014140.4(SMARCAL1):c.1503del (p.Pro502fs)

Allele ID
931139
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 216435355 (GRCh38) GRCh38 UCSC
2: 217300078 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.217300078del
NC_000002.12:g.216435355del
NG_009771.1:g.27942del
... more HGVS
Protein change
P502fs
Other names
-
Canonical SPDI
NC_000002.12:216435354:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 11, 2019 RCV001205978.2
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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
Pathogenic
(Oct 11, 2019)
criteria provided, single submitter
Method: clinical testing
Schimke immuno-osseous dysplasia
Allele origin: germline
Invitae
Accession: SCV001377262.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Pro502Hisfs*3) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein … (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
Schimke Immunoosseous Dysplasia Morimoto M - 2016 PMID: 20301550
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Boerkoel CF Nature genetics 2002 PMID: 11799392

Record last updated Oct 08, 2021