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NM_015311.3(OBSL1):c.690dup (p.Glu231fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 8, 2017)
Last evaluated:
Jan 1, 2017
Accession:
VCV000523511.1
Variation ID:
523511
Description:
1bp duplication
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NM_015311.3(OBSL1):c.690dup (p.Glu231fs)

Allele ID
513922
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 219570542-219570543 (GRCh38) GRCh38 UCSC
2: 220435264-220435265 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.220435270dup
NC_000002.12:g.219570548dup
NM_015311.3:c.690dup MANE Select NP_056126.1:p.Glu231fs frameshift
... more HGVS
Protein change
E231fs
Other names
-
Canonical SPDI
NC_000002.12:219570542:GGGGGG:GGGGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658796183
OMIM: 610991.0004
dbSNP: rs1553538488
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 criteria provided, single submitter Jan 1, 2017 RCV000626927.1
Pathogenic 1 no assertion criteria provided Jun 1, 2009 RCV000001103.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OBSL1 - - GRCh38
GRCh37
430 455

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 01, 2017)
criteria provided, single submitter
Method: clinical testing
Short stature
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV000747630.1
Submitted: (Dec 08, 2017)
Evidence details
Pathogenic
(Jun 01, 2009)
no assertion criteria provided
Method: literature only
THREE M SYNDROME 2
Allele origin: germline
OMIM
Accession: SCV000021253.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Hanson D American journal of human genetics 2009 PMID: 19481195

Text-mined citations for rs1553538488...

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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 Jan 25, 2021