NC_000003.12:g.57429239_57506648del AND Megacolon

Germline classification:: Uncertain significance (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:: RCV001290048.1

Allele description [Variation Report for NC_000003.12:g.57429239_57506648del]

NC_000003.12:g.57429239_57506648del

Gene:

DNAH12:dynein axonemal heavy chain 12 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p14.3

Genomic location:

Chr3: 57414966 - 57492375 (on Assembly GRCh37)

Preferred name:

NC_000003.12:g.57429239_57506648del

HGVS:

NC_000003.12:g.57429239_57506648del
NC_000003.11:g.57414966_57492375del

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001426240	Clinical Genetics, Erasmus University Medical Center	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Uncertain significance (Jan 1, 2020)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001426240

Clinical Genetics, Erasmus University Medical Center

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Uncertain significance
(Jan 1, 2020)

unknown

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	unknown	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, SCV001426240.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	1	not provided

Last Updated: Jul 15, 2024

ClinVar

Relating variation to medicine