NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs) AND Bohring-Opitz syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 10, 2020
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:: RCV002468718.4

Allele description [Variation Report for NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)]

NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

20q11.21

Genomic location:

Preferred name:

NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)

HGVS:

NC_000020.11:g.32436654_32436669del
NG_027868.1:g.83311_83326del
NM_001363734.1:c.3759_3774del
NM_015338.6:c.3942_3957delMANE SELECT
NP_001350663.1:p.Gln1254fs
NP_056153.2:p.Gln1315Argfs
NP_056153.2:p.Gln1315fs
LRG_630t1:c.3942_3957del16
LRG_630:g.83311_83326del
LRG_630p1:p.Gln1315Argfs
NC_000020.10:g.31024457_31024472del
NM_015338.5:c.3942_3957del16

Protein change:

Q1254fs

Molecular consequence:

NM_001363734.1:c.3759_3774del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015338.6:c.3942_3957del - 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
SCV002764732	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Nov 10, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002764732

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Nov 10, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764732.1

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

Last Updated: Jun 23, 2024

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