NM_005461.5(MAFB):c.644del (p.Gln215fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000240779.2

Allele description [Variation Report for NM_005461.5(MAFB):c.644del (p.Gln215fs)]

NM_005461.5(MAFB):c.644del (p.Gln215fs)

Gene:
MAFB:MAF bZIP transcription factor B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20q12
Genomic location:
Preferred name:
NM_005461.5(MAFB):c.644del (p.Gln215fs)
HGVS:
  • NC_000020.11:g.40688207del
  • NG_023378.1:g.6030del
  • NM_005461.5:c.644delMANE SELECT
  • NP_005452.2:p.Gln215fs
  • NC_000020.10:g.39316847del
  • NM_005461.4:c.644delA
Protein change:
Q215fs
Links:
OMIM: 608968.0009; dbSNP: rs879255277
NCBI 1000 Genomes Browser:
rs879255277
Molecular consequence:
  • NM_005461.5:c.644del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Duane syndrome type 1 (DURS1)
Identifiers:
MONDO: MONDO:0024265; MedGen: C0994516; Orphanet: 233; OMIM: 126800
Name:
Duane retraction syndrome 2
Synonyms:
Duane syndrome type 2
Identifiers:
MONDO: MONDO:0011444; MedGen: C0751083; Orphanet: 233; OMIM: 604356

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000265996Engle Laboratory,Boston Children's Hospitalcriteria provided, single submitter
Pathogenic
(Mar 1, 2016)
inheritedresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes6not providednot providednot providednot providedresearch

Citations

PubMed

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC.

Am J Hum Genet. 2016 Jun 2;98(6):1220-1227. doi: 10.1016/j.ajhg.2016.03.023. Epub 2016 May 12.

PubMed [citation]
PMID:
27181683
PMCID:
PMC4908193

Details of each submission

From Engle Laboratory,Boston Children's Hospital, SCV000265996.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (1)
2not providednot providednot providednot providedresearch PubMed (1)

Description

Pathogenicity supported by mouse in vivo data

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not providednot providednot provided
2inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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