GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641) AND Alveolar capillary dysplasia with pulmonary venous misalignment

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 21, 2017
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:: RCV001004081.6

Allele description [Variation Report for GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)]

GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)

Genes:

CIBAR2:CBY1 interacting BAR domain containing 2 [Gene - OMIM - HGNC]
EMC8:ER membrane protein complex subunit 8 [Gene - OMIM - HGNC]
FBXO31:F-box protein 31 [Gene - OMIM - HGNC]
FENDRR:FOXF1 adjacent non-coding developmental regulatory RNA [Gene - OMIM - HGNC]
GINS2:GINS complex subunit 2 [Gene - OMIM - HGNC]
GSE1:Gse1 coiled-coil protein [Gene - OMIM - HGNC]
KIAA0513:KIAA0513 [Gene - OMIM - HGNC]
ZCCHC14-DT:ZCCHC14 divergent transcript [Gene - HGNC]
C16orf74:chromosome 16 open reading frame 74 [Gene - HGNC]
C16orf95:chromosome 16 open reading frame 95 [Gene - HGNC]
CRISPLD2:cysteine rich secretory protein LCCL domain containing 2 [Gene - OMIM - HGNC]
COX4I1:cytochrome c oxidase subunit 4I1 [Gene - OMIM - HGNC]
FOXC2:forkhead box C2 [Gene - OMIM - HGNC]
FOXF1:forkhead box F1 [Gene - OMIM - HGNC]
FOXL1:forkhead box L1 [Gene - OMIM - HGNC]
IRF8:interferon regulatory factor 8 [Gene - OMIM - HGNC]
JPH3:junctophilin 3 [Gene - OMIM - HGNC]
LINC01082:long intergenic non-protein coding RNA 1082 [Gene - OMIM - HGNC]
MTHFSD:methenyltetrahydrofolate synthetase domain containing [Gene - OMIM - HGNC]
MAP1LC3B:microtubule associated protein 1 light chain 3 beta [Gene - OMIM - HGNC]
ZCCHC14:zinc finger CCHC-type containing 14 [Gene - OMIM - HGNC]
ZDHHC7:zinc finger DHHC-type palmitoyltransferase 7 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

16q24.1-24.2

Genomic location:

Chr16: 84872102 - 87678641 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)

HGVS:

NC_000016.9:g.(?_84872102)_(87678641_?)del

Observations:

Condition(s)

Name:: Alveolar capillary dysplasia with pulmonary venous misalignment
Synonyms:: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES; Alveolar capillary dysplasia with misalignment of pulmonary veins; Congenital alveolar capillary dysplasia
Identifiers:: MONDO: MONDO:0009934; MedGen: C2960310; Orphanet: 210122; OMIM: 265380

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001162805	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Dec 21, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001162805

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Dec 21, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001162805.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Jun 23, 2024

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