NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs) AND Bohring-Opitz syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV000856733.1

Allele description [Variation Report for NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs)]

NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

20q11.21

Genomic location:

Preferred name:

NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs)

HGVS:

NC_000020.11:g.32433356GT[2]
NG_027868.1:g.80013GT[2]
NM_001363734.1:c.979_980del
NM_015338.6:c.1162_1163delMANE SELECT
NP_001350663.1:p.Val327fs
NP_056153.2:p.Val388fs
LRG_630:g.80013GT[2]
NC_000020.10:g.31021159GT[2]
NM_015338.5:c.1162_1163delGT

Protein change:

V327fs

Links:

dbSNP: rs886043994

NCBI 1000 Genomes Browser:

rs886043994

Molecular consequence:

NM_001363734.1:c.979_980del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015338.6:c.1162_1163del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000999279	Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	unknown	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

SCV000999279

Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

unknown

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	unknown	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, SCV000999279.1

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

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

Last Updated: Jul 29, 2023

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