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NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 20, 2017)
Last evaluated:
Sep 18, 2017
Accession:
VCV000522487.1
Variation ID:
522487
Description:
6bp duplication
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NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup)

Allele ID
513024
Variant type
Duplication
Variant length
6 bp
Cytogenetic location
2q35
Genomic location
2: 216432766-216432767 (GRCh38) GRCh38 UCSC
2: 217297489-217297490 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_108:g.25354_25359dup
NM_014140.3:c.1384_1389dupCTGGGG
LRG_108t1:c.1384_1389dup LRG_108p1:p.Leu462_Gly463dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:216432766:CTGGGG:CTGGGGCTGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658796172
dbSNP: rs1553526162
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Sep 18, 2017 RCV000625629.1
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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
465 488

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 18, 2017)
no assertion criteria provided
Method: clinical testing
Schimke immuno-osseous dysplasia
Allele origin: germline
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
Accession: SCV000746130.1
Submitted: (Dec 20, 2017)
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 rs1553526162...

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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