U.S. flag

An official website of the United States government

NC_000016.9:g.(?_3293141)_(3929917_?)del AND Rubinstein-Taybi syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 13, 2021
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:
RCV001950905.3

Allele description [Variation Report for NC_000016.9:g.(?_3293141)_(3929917_?)del]

NC_000016.9:g.(?_3293141)_(3929917_?)del

Genes:
  • CREBBP:CREB binding protein [Gene - OMIM - HGNC]
  • MEFV:MEFV innate immunity regulator, pyrin [Gene - OMIM - HGNC]
  • MTRNR2L4:MT-RNR2 like 4 [Gene - HGNC]
  • NAA60:N-alpha-acetyltransferase 60, NatF catalytic subunit [Gene - OMIM - HGNC]
  • NLRC3:NLR family CARD domain containing 3 [Gene - OMIM - HGNC]
  • SLX4:SLX4 structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • TRAP1:TNF receptor associated protein 1 [Gene - OMIM - HGNC]
  • C16orf90:chromosome 16 open reading frame 90 [Gene - HGNC]
  • CLUAP1:clusterin associated protein 1 [Gene - OMIM - HGNC]
  • DNASE1:deoxyribonuclease 1 [Gene - OMIM - HGNC]
  • OR2C1:olfactory receptor family 2 subfamily C member 1 [Gene - HGNC]
  • TIGD7:tigger transposable element derived 7 [Gene - OMIM - HGNC]
  • ZSCAN32:zinc finger and SCAN domain containing 32 [Gene - HGNC]
  • ZNF174:zinc finger protein 174 [Gene - OMIM - HGNC]
  • ZNF263:zinc finger protein 263 [Gene - OMIM - HGNC]
  • ZNF597:zinc finger protein 597 [Gene - OMIM - HGNC]
  • ZNF75A:zinc finger protein 75A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Chr16: 3293141 - 3929917 (on Assembly GRCh37)
Preferred name:
NC_000016.9:g.(?_3293141)_(3929917_?)del
HGVS:
NC_000016.9:g.(?_3293141)_(3929917_?)del

Condition(s)

Name:
Rubinstein-Taybi syndrome (RSTS)
Synonyms:
Broad thumb-hallux syndrome
Identifiers:
MONDO: MONDO:0019188; MedGen: C0035934; OMIM: PS180849

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
SCV002237268Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 13, 2021) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.

Wang B, Ji T, Zhou X, Wang J, Wang X, Wang J, Zhu D, Zhang X, Sham PC, Zhang X, Ma X, Jiang Y.

Sci Rep. 2016 Jun 3;6:25954. doi: 10.1038/srep25954.

PubMed [citation]
PMID:
27257017
PMCID:
PMC4891738

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

Bartsch O, Locher K, Meinecke P, Kress W, Seemanová E, Wagner A, Ostermann K, Rödel G.

J Med Genet. 2002 Jul;39(7):496-501. No abstract available.

PubMed [citation]
PMID:
12114483
PMCID:
PMC1735164
See all PubMed Citations (7)

Details of each submission

From Invitae, SCV002237268.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the CREBBP gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletion of CREBBP has been reported to be de novo in the literature in an individual with growth retardation and other developmental abnormalities (PMID: 27257017). In addition, larger copy number events that include this gene have been reported in many individuals with Rubinstein-Taybi syndrome (PMID: 12114483, 17855048, 25805166, 10602114). ClinVar contains an entry for a similar variant (Variation ID: 375635). Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 11, 2023