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NM_020436.5(SALL4):c.410dup (p.Gly138fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 10, 2015)
Last evaluated:
Mar 1, 2015
Accession:
VCV000218947.1
Variation ID:
218947
Description:
1bp duplication
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NM_020436.5(SALL4):c.410dup (p.Gly138fs)

Allele ID
215781
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
20q13.2
Genomic location
20: 51792073 (GRCh38) GRCh38 UCSC
20: 50408612 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.50408613dup
NC_000020.11:g.51792074dup
NM_001318031.2:c.410dup NP_001304960.1:p.Gly138fs frameshift
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10575834
dbSNP: rs879255537
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Mar 1, 2015 RCV000239600.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SALL4 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
140 153

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 01, 2015)
no assertion criteria provided
Method: research
Duane-radial ray syndrome
The index case presents bilaterally  (more...)
(Autosomal dominant inheritance)
Allele origin: maternal
Laboratory of Human Genetics,Universidade de São Paulo
Accession: SCV000256862.1
Submitted: (Nov 10, 2015)
Evidence details
Publications
PubMed (1)
Comment:
Okihiro syndrome without Duame anomaly being responsible for a severe case of foot defect in the proband.

Citations for this variant

Title Author Journal Year Link
Novel frameshift variant in gene SALL4 causing Okihiro syndrome. Alves LU European journal of medical genetics 2016 PMID: 26791099

Record last updated Oct 27, 2019