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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:
1

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

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002764732Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Nov 10, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024