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NM_005461.5(MAFB):c.803del (p.Asn268fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 18, 2016)
Last evaluated:
Mar 1, 2016
Accession:
VCV000224628.2
Variation ID:
224628
Description:
1bp deletion
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NM_005461.5(MAFB):c.803del (p.Asn268fs)

Allele ID
226409
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
20q12
Genomic location
20: 40688048 (GRCh38) GRCh38 UCSC
20: 39316688 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.39316689del
NC_000020.11:g.40688049del
NG_023378.1:g.6189del
NM_005461.5:c.803del MANE Select NP_005452.2:p.Asn268fs frameshift
Protein change
N268fs
Other names
-
Canonical SPDI
NC_000020.11:40688047:TT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10575959
OMIM: 608968.0007
dbSNP: rs879255275
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 Mar 1, 2016 RCV000240679.2
Pathogenic 1 no assertion criteria provided Jul 18, 2016 RCV000235061.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MAFB No evidence available No evidence available GRCh38
GRCh37
97 105

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Duane syndrome type 1
Duane retraction syndrome 2
Allele origin: de novo
Engle Laboratory,Boston Children's Hospital
Accession: SCV000265997.3
Submitted: (Mar 11, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jul 18, 2016)
no assertion criteria provided
Method: literature only
DUANE RETRACTION SYNDROME 3 WITH DEAFNESS
Allele origin: germline
OMIM
Accession: SCV000292425.1
Submitted: (Jul 18, 2016)
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
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. Park JG American journal of human genetics 2016 PMID: 27181683

Text-mined citations for rs879255275...

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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