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NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) AND Cornelia de Lange syndrome 1

Germline classification:
Pathogenic (1 submission)
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:
RCV000856789.2

Allele description [Variation Report for NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)]

NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)

Gene:
HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)
HGVS:
  • NC_000023.11:g.72495210G>A
  • NG_015851.1:g.82894C>T
  • NM_001166418.2:c.223C>T
  • NM_001166419.2:c.496C>T
  • NM_001166448.2:c.223C>T
  • NM_018486.3:c.496C>TMANE SELECT
  • NP_001159890.1:p.Arg75Ter
  • NP_001159891.1:p.Arg166Ter
  • NP_001159920.1:p.Arg75Ter
  • NP_060956.1:p.Arg166Ter
  • NC_000023.10:g.71715060G>A
  • NM_001166419.1:c.496C>T
  • NM_018486.2:c.496C>T
  • NR_051952.2:n.436C>T
Protein change:
R166*
Links:
dbSNP: rs886041936
NCBI 1000 Genomes Browser:
rs886041936
Molecular consequence:
  • NR_051952.2:n.436C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001166418.2:c.223C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001166419.2:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001166448.2:c.223C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018486.3:c.496C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Cornelia de Lange syndrome 1 (CDLS1)
Synonyms:
Typus degenerativus amstelodamensis; Brachmann de Lange syndrome
Identifiers:
MONDO: MONDO:0007387; MedGen: C4551851; Orphanet: 199; OMIM: 122470

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000999347Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not 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 Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, SCV000999347.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 3, 2023