NC_000010.10:g.49033586_52417694del AND Megacolon

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2020
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:: RCV001290060.1

Allele description [Variation Report for NC_000010.10:g.49033586_52417694del]

NC_000010.10:g.49033586_52417694del

Genes:

AGAP6:ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 [Gene - HGNC]
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
FRMPD2:FERM and PDZ domain containing 2 [Gene - OMIM - HGNC]
ASAH2:N-acylsphingosine amidohydrolase 2 [Gene - OMIM - HGNC]
ARHGAP22:Rho GTPase activating protein 22 [Gene - OMIM - HGNC]
VSTM4:V-set and transmembrane domain containing 4 [Gene - HGNC]
WASHC2A:WASH complex subunit 2A [Gene - HGNC]
WDFY4:WDFY family member 4 [Gene - OMIM - HGNC]
CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
C10orf53:chromosome 10 open reading frame 53 [Gene - HGNC]
C10orf71:chromosome 10 open reading frame 71 [Gene - HGNC]
DRGX:dorsal root ganglia homeobox [Gene - OMIM - HGNC]
FAM170B:family with sequence similarity 170 member B [Gene - HGNC]
FAM25C:family with sequence similarity 25 member C [Gene - HGNC]
LRRC18:leucine rich repeat containing 18 [Gene - OMIM - HGNC]
MSMB:microseminoprotein beta [Gene - OMIM - HGNC]
MAPK8:mitogen-activated protein kinase 8 [Gene - OMIM - HGNC]
NCOA4:nuclear receptor coactivator 4 [Gene - OMIM - HGNC]
OGDHL:oxoglutarate dehydrogenase L [Gene - OMIM - HGNC]
PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]
PARG:poly(ADP-ribose) glycohydrolase [Gene - OMIM - HGNC]
SLC18A3:solute carrier family 18 member A3 [Gene - OMIM - HGNC]
SGMS1:sphingomyelin synthase 1 [Gene - OMIM - HGNC]
TIMM23:translocase of inner mitochondrial membrane 23 [Gene - OMIM - HGNC]
TMEM273:transmembrane protein 273 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q11.22-11.23

Genomic location:

Chr10: 49033586 - 52417694 (on Assembly GRCh37)

Preferred name:

NC_000010.10:g.49033586_52417694del

HGVS:

NC_000010.10:g.49033586_52417694del

Condition(s)

Name:: Megacolon
Identifiers:: MONDO: MONDO:0001273; MedGen: C0025160; Human Phenotype Ontology: HP:6000852

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001426260	Clinical Genetics, Erasmus University Medical Center	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Likely pathogenic (Jan 1, 2020)	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001426260

Clinical Genetics, Erasmus University Medical Center

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Likely pathogenic
(Jan 1, 2020)

maternal

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	1	not provided	not provided	not provided	research

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]

PMID:: 21681106

Details of each submission

From Clinical Genetics, Erasmus University Medical Center, SCV001426260.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

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

Last Updated: Jul 15, 2024

ClinVar

Relating variation to medicine