GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1 AND Syndromic anorectal malformation

Germline classification:: association (1 submission)
Last evaluated:: Aug 1, 2022
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:: RCV002286604.1

Allele description [Variation Report for GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1]

GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1

Genes:

CYLD:CYLD lysine 63 deubiquitinase [Gene - OMIM - HGNC]
HEATR3:HEAT repeat containing 3 [Gene - OMIM - HGNC]
NKD1:NKD inhibitor of WNT signaling pathway 1 [Gene - OMIM - HGNC]
ADCY7:adenylate cyclase 7 [Gene - OMIM - HGNC]
BRD7:bromodomain containing 7 [Gene - OMIM - HGNC]
NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]
SNX20:sorting nexin 20 [Gene - OMIM - HGNC]
SALL1:spalt like transcription factor 1 [Gene - OMIM - HGNC]
TENT4B:terminal nucleotidyltransferase 4B [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

16q12.1

Genomic location:

Chr16: 50089192 - 51652287 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1

HGVS:

Condition(s)

Name:: Syndromic anorectal malformation
Identifiers:: MedGen: C5681738

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002576533	Department of Pediatric and Adolescent Medicine, University of Erlangen	no assertion criteria provided	association (Aug 1, 2022)	de novo	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002576533

Department of Pediatric and Adolescent Medicine, University of Erlangen

no assertion criteria provided

association
(Aug 1, 2022)

de novo

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Department of Pediatric and Adolescent Medicine, University of Erlangen, SCV002576533.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 26, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1 AND Syndromic anorectal malformation

Allele description [Variation Report for GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1]

GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Department of Pediatric and Adolescent Medicine, University of Erlangen, SCV002576533.1