NM_001301131.1(POLR2F):c.294-27388_*10734del AND Hirschsprung disease, susceptibility to, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 11, 2013
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:: RCV000144842.1

Allele description [Variation Report for NM_001301131.1(POLR2F):c.294-27388_*10734del]

NM_001301131.1(POLR2F):c.294-27388_*10734del

Genes:

SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]
LOC130067396:ATAC-STARR-seq lymphoblastoid active region 18989 [Gene]
LOC126863146:BRD4-independent group 4 enhancer GRCh37_chr22:38427029-38428228 [Gene]
POLR2F:RNA polymerase II, I and III subunit F [Gene - OMIM - HGNC]
LOC110120882:VISTA enhancer hs491 [Gene]
LOC110120883:VISTA enhancer hs492 [Gene]

Variant type:

Deletion

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_001301131.1(POLR2F):c.294-27388_*10734del

HGVS:

NC_000022.11:g.38013680_38051826del
NC_000022.10:g.38409687_38447833del38147

Note:

38,147-nt deletion spanning 3'-terminal exon of gene POLR2F transcript NM_001301131.1 plus flanking genomic sequences.

Condition(s)

Name:: Hirschsprung disease, susceptibility to, 1
Synonyms:: Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
Identifiers:: MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108699	U955 Equipe 11, INSERM	no assertion criteria provided	Pathogenic (Dec 11, 2013)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000108699

U955 Equipe 11, INSERM

no assertion criteria provided

Pathogenic
(Dec 11, 2013)

de novo

clinical testing

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease.

Lecerf L, Kavo A, Ruiz-Ferrer M, Baral V, Watanabe Y, Chaoui A, Pingault V, Borrego S, Bondurand N.

Hum Mutat. 2014 Mar;35(3):303-7. doi: 10.1002/humu.22499. Epub 2014 Jan 8.

PubMed [citation]

PMID:: 24357527

Details of each submission

From U955 Equipe 11, INSERM, SCV000108699.1

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

Description

Regulation of SOX10 expression

#	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: Oct 14, 2023

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