NM_015311.3(OBSL1):c.690dup (p.Glu231fs) AND Three M syndrome 2

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2009)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000001103.4

Allele description [Variation Report for NM_015311.3(OBSL1):c.690dup (p.Glu231fs)]

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

Gene:
OBSL1:obscurin like cytoskeletal adaptor 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_015311.3(OBSL1):c.690dup (p.Glu231fs)
HGVS:
  • NC_000002.12:g.219570548dup
  • NG_016977.1:g.6004dup
  • NM_001173408.2:c.690dup
  • NM_001173431.2:c.690dup
  • NM_015311.3:c.690dupMANE SELECT
  • NP_001166879.1:p.Glu231fs
  • NP_001166902.1:p.Glu231fs
  • NP_056126.1:p.Glu231fs
  • NC_000002.11:g.220435270dup
  • NM_015311.2:c.690dupC
Protein change:
E231fs
Links:
OMIM: 610991.0004; dbSNP: rs1553538488
NCBI 1000 Genomes Browser:
rs1553538488
Molecular consequence:
  • NM_001173408.2:c.690dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173431.2:c.690dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015311.3:c.690dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Three M syndrome 2 (3M2)
Synonyms:
3M SYNDROME 2
Identifiers:
MONDO: MONDO:0013039; MedGen: C2752041; Orphanet: 2616; OMIM: 612921

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021253OMIMno assertion criteria providedPathogenic
(Jun 1, 2009)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE.

Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021. Epub 2009 May 28.

PubMed [citation]
PMID:
19481195
PMCID:
PMC2694976

Details of each submission

From OMIM, SCV000021253.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with 3M syndrome-2 (3M2; 612921), Hanson et al. (2009) identified a homozygous 1-bp insertion (690insC) in exon 2 of the OBSL1 gene, resulting in a frameshift and premature termination. The mutation affected all OBSL1 isoforms.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 25, 2021

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