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GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409) AND Coffin-Siris syndrome 12

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 18, 2023
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:
RCV003232036.2

Allele description [Variation Report for GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)]

GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)

Genes:
Variant type:
copy number gain
Cytogenetic location:
19q13.32-13.33
Genomic location:
Chr19: 47028919 - 48185409 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)

Condition(s)

Name:
Coffin-Siris syndrome 12
Identifiers:
MONDO: MONDO:0025699; MedGen: C5444111; OMIM: 619325

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  • Lipid A
    Lipid A
    Lipid A is the biologically active component of lipopolysaccharides. It shows strong endotoxic activity and exhibits immunogenic properties.<br/>Year introduced: 1984
    MeSH
  • D008050 (1)
    MeSH

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003930299Center for Molecular Medicine, Children’s Hospital of Fudan University
criteria provided, single submitter

(ACMG Guidelines 2015)		Likely pathogenic
(Jan 18, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Center for Molecular Medicine, Children’s Hospital of Fudan University, SCV003930299.1

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

Last Updated: Jun 23, 2024