NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) AND Mental retardation, autosomal dominant 23

Clinical significance:Likely pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000987091.1

Allele description [Variation Report for NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs)]

NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs)

Gene:
SETD5:SET domain containing 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs)
HGVS:
  • NC_000003.12:g.9475617dup
  • NG_034132.1:g.82918dup
  • NM_001080517.3:c.3855dupMANE SELECT
  • NM_001292043.2:c.3561dup
  • NM_001349451.2:c.3561dup
  • NP_001073986.1:p.Ser1286fs
  • NP_001278972.1:p.Ser1188fs
  • NP_001336380.1:p.Ser1188fs
  • NC_000003.11:g.9517294_9517295insC
  • NC_000003.11:g.9517301dup
  • NM_001080517.1:c.3855dup
  • NM_001080517.1:c.3855dupC
Protein change:
S1188fs
Links:
dbSNP: rs1553641476
NCBI 1000 Genomes Browser:
rs1553641476
Molecular consequence:
  • NM_001080517.3:c.3855dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001292043.2:c.3561dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001349451.2:c.3561dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mental retardation, autosomal dominant 23 (MRD23)
Identifiers:
MONDO: MONDO:0014336; MedGen: C3810406; Orphanet: 404440; OMIM: 615761

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001136289Mendelicscriteria provided, single submitter
Likely pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001136289.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 25, 2021

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