NR_131224.1(H19):n.249+1110G>T AND Beckwith-Wiedemann syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000128483.2

Allele description

NR_131224.1(H19):n.249+1110G>T

Genes:

H19:H19 imprinted maternally expressed transcript [Gene - OMIM - HGNC]
H19-ICR:H19/IGF2 imprinting control region [Gene - OMIM]
MRPL23:mitochondrial ribosomal protein L23 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NR_131224.1(H19):n.249+1110G>T

HGVS:

NC_000011.10:g.2000108C>A
NG_016165.1:g.2728G>T
NG_041945.1:g.1464C>A
LRG_1030:g.2728G>T
NC_000011.9:g.2021338C>A
NR_131224.1:n.249+1110G>T

Links:

dbSNP: rs431825167

NCBI 1000 Genomes Browser:

rs431825167

Molecular consequence:

NR_131224.1:n.249+1110G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Beckwith-Wiedemann syndrome (BWS)
Synonyms:: Exomphalos macroglossia gigantism syndrome; EMG Syndrome
Identifiers:: MONDO: MONDO:0007534; MedGen: C0004903; Orphanet: 116; OMIM: 130650

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000114950	UMR_S938_Pr. Le Bouc INSERM	no classification provided	not provided	germline	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000114950

UMR_S938_Pr. Le Bouc INSERM

no classification provided

not provided

germline

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From UMR_S938_Pr. Le Bouc INSERM, SCV000114950.1

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

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

Last Updated: Mar 26, 2023

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