NM_015338.6(ASXL1):c.1719+1G>A AND Bohring-Opitz syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 17, 2021
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:: RCV001528120.2

Allele description [Variation Report for NM_015338.6(ASXL1):c.1719+1G>A]

NM_015338.6(ASXL1):c.1719+1G>A

Gene:

ASXL1:ASXL transcriptional regulator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

Preferred name:

NM_015338.6(ASXL1):c.1719+1G>A

HGVS:

NC_000020.11:g.32433918G>A
NG_027868.1:g.80575G>A
NM_001363734.1:c.1536+1G>A
NM_015338.6:c.1719+1G>AMANE SELECT
LRG_630:g.80575G>A
NC_000020.10:g.31021721G>A

Links:

dbSNP: rs1311986203

NCBI 1000 Genomes Browser:

rs1311986203

Molecular consequence:

NM_001363734.1:c.1536+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_015338.6:c.1719+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Bohring-Opitz syndrome
Synonyms:: C-like syndrome; Opitz trigonocephaly-like syndrome; Bohring syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011510; MedGen: C0796232; Orphanet: 97297; OMIM: 605039

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001739327	Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	no assertion criteria provided	Pathogenic (Feb 17, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001739327

Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

no assertion criteria provided

Pathogenic
(Feb 17, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Genetics Laboratory, University Hospital Schleswig-Holstein, SCV001739327.1

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

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

Last Updated: Dec 24, 2023

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