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

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000626927.1

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:
Short stature
Synonyms:
Decreased body height; Height less than 3rd percentile; Small stature; See all synonyms [MedGen]
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000747630Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2017)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000747630.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 25, 2021

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