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NM_004187.5(KDM5C):c.2770C>T (p.Gln924Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000624775.2

Allele description [Variation Report for NM_004187.5(KDM5C):c.2770C>T (p.Gln924Ter)]

NM_004187.5(KDM5C):c.2770C>T (p.Gln924Ter)

Gene:
KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_004187.5(KDM5C):c.2770C>T (p.Gln924Ter)
HGVS:
  • NC_000023.11:g.53196897G>A
  • NG_008085.2:g.33526C>T
  • NM_001146702.2:c.2569C>T
  • NM_001282622.3:c.2767C>T
  • NM_001353978.3:c.2770C>T
  • NM_001353979.2:c.2767C>T
  • NM_001353981.2:c.2770C>T
  • NM_001353982.2:c.2767C>T
  • NM_001353984.2:c.2770C>T
  • NM_004187.5:c.2770C>TMANE SELECT
  • NP_001140174.1:p.Gln857Ter
  • NP_001269551.1:p.Gln923Ter
  • NP_001340907.1:p.Gln924Ter
  • NP_001340908.1:p.Gln923Ter
  • NP_001340910.1:p.Gln924Ter
  • NP_001340911.1:p.Gln923Ter
  • NP_001340913.1:p.Gln924Ter
  • NP_004178.2:p.Gln924Ter
  • NC_000023.10:g.53226079G>A
  • NM_004187.3:c.2770C>T
  • NR_148672.2:n.3088C>T
  • NR_148673.2:n.3085C>T
  • NR_148674.2:n.2965C>T
Protein change:
Q857*
Links:
dbSNP: rs1556837420
NCBI 1000 Genomes Browser:
rs1556837420
Molecular consequence:
  • NR_148672.2:n.3088C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148673.2:n.3085C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148674.2:n.2965C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001146702.2:c.2569C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282622.3:c.2767C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353978.3:c.2770C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353979.2:c.2767C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353981.2:c.2770C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353982.2:c.2767C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353984.2:c.2770C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004187.5:c.2770C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000741608Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Nov 1, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasian and Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000741608.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian and Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 7, 2023