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NC_000017.11:g.12269251_12706280del AND Megabladder, congenital

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 23, 2019
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:
RCV000984632.1

Allele description [Variation Report for NC_000017.11:g.12269251_12706280del]

NC_000017.11:g.12269251_12706280del

Genes:
  • LOC130060297:ATAC-STARR-seq lymphoblastoid active region 11736 [Gene]
  • LOC126862508:BRD4-independent group 4 enhancer GRCh37_chr17:12533784-12534983 [Gene]
  • MYOCD-AS1:MYOCD antisense RNA 1 [Gene - HGNC]
  • LOC132090454:Neanderthal introgressed variant-containing enhancer experimental_46971 [Gene]
  • LOC125177420:Sharpr-MPRA regulatory region 9419 [Gene]
  • LINC00670:long intergenic non-protein coding RNA 670 [Gene - HGNC]
  • MYOCD:myocardin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NC_000017.11:g.12269251_12706280del
HGVS:
  • NC_000017.11:g.12269251_12706280del
  • NC_000017.10:g.12172568_12609597del
Nucleotide change:
420-KB DEL, EX1-2DEL
Links:
OMIM: 606127.0003

Condition(s)

Name:
Megabladder, congenital
Identifiers:
MONDO: MONDO:0032879; MedGen: C5231472; OMIM: 618719

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001132674OMIM
no assertion criteria provided
Pathogenic
(Dec 23, 2019) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

Houweling AC, Beaman GM, Postma AV, Gainous TB, Lichtenbelt KD, Brancati F, Lopes FM, van der Made I, Polstra AM, Robinson ML, Wright KD, Ellingford JM, Jackson AR, Overwater E, Genesio R, Romano S, Camerota L, D'Angelo E, Meijers-Heijboer EJ, Christoffels VM, McHugh KM, Black BL, et al.

J Clin Invest. 2019 Dec 2;129(12):5374-5380. doi: 10.1172/JCI128545.

PubMed [citation]
PMID:
31513549
PMCID:
PMC6877301

Details of each submission

From OMIM, SCV001132674.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a male fetus (family C) with congenital megabladder (MGBL; 618719), Houweling et al. (2019) identified heterozygosity for a de novo 420-kb deletion (chr17.12,172,568-12,609,597, GRCh37) encompassing exons 1 and 2 of the MYOCD gene.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024