NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 26, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000523957.2

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000619370GeneDxcriteria provided, single submitter
Pathogenic
(Mar 26, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000619370.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Frameshift variant predicted to result in protein truncation, as the last 157 amino acids are replaced with 36 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28549204)

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

Last Updated: Sep 25, 2021

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