U.S. flag

An official website of the United States government

NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter) AND Intellectual disability, autosomal recessive 65

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001542642.2

Allele description [Variation Report for NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)]

NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)

Gene:
KDM5B:lysine demethylase 5B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)
HGVS:
  • NC_000001.11:g.202745930G>A
  • NG_050659.1:g.68478C>T
  • NM_001314042.2:c.2359C>T
  • NM_001347591.2:c.2116C>T
  • NM_001399817.1:c.2236C>T
  • NM_006618.4:c.2251C>T
  • NM_006618.5:c.2251C>TMANE SELECT
  • NP_001300971.1:p.Arg787Ter
  • NP_001334520.1:p.Arg706Ter
  • NP_001386746.1:p.Arg746Ter
  • NP_006609.3:p.Arg751Ter
  • NC_000001.10:g.202715058G>A
  • NM_006618.3:c.2251C>T
Protein change:
R706*
Links:
dbSNP: rs1287727763
NCBI 1000 Genomes Browser:
rs1287727763
Molecular consequence:
  • NM_001314042.2:c.2359C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001347591.2:c.2116C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001399817.1:c.2236C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006618.5:c.2251C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Intellectual disability, autosomal recessive 65
Synonyms:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65
Identifiers:
MONDO: MONDO:0020850; MedGen: C4748219; OMIM: 618109

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760005Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Likely pathogenicgermlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760005.1

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

Last Updated: Oct 8, 2024