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GRCh37/hg19 16p13.3(chr16:3784414-3821324) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 15, 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:
RCV001352636.1

Allele description [Variation Report for GRCh37/hg19 16p13.3(chr16:3784414-3821324)]

GRCh37/hg19 16p13.3(chr16:3784414-3821324)

Gene:
CREBBP:CREB binding protein [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16p13.3
Genomic location:
Chr16: 3784414 - 3821324 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16p13.3(chr16:3784414-3821324)
HGVS:
NC_000016.9:g.(?_3784414)_(3821324_?)del

Condition(s)

Name:
Autism (AUTS)
Synonyms:
Autistic disorder; Autistic disorder of childhood onset
Identifiers:
MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Corpus callosum, agenesis of
Synonyms:
Corpus callosum agenesis; Mental retardation hypoplastic corpus callosum preauricular tag; Da silva syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009022; MedGen: C0175754; Orphanet: 200; OMIM: 217990; Human Phenotype Ontology: HP:0001274
Name:
Hypertrichosis
Identifiers:
MONDO: MONDO:0019280; MedGen: C0020555; Human Phenotype Ontology: HP:0000998
Name:
Broad thumb
Identifiers:
MedGen: C0426891; Human Phenotype Ontology: HP:0011304
Name:
Delayed speech and language development
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001547204Medical Genetics Laboratory, CHRU Nancy
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)		Pathogenic
(Mar 15, 2021) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Medical Genetics Laboratory, CHRU Nancy, SCV001547204.1

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

Last Updated: Jun 24, 2022