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NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs) AND multiple conditions

Germline classification:
Likely 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:
RCV003883375.1

Allele description [Variation Report for NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)]

NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)

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.3747_3748del (p.Met1249fs)
HGVS:
  • NC_000020.11:g.32436459_32436460del
  • NG_027868.1:g.83116_83117del
  • NM_001363734.1:c.3564_3565del
  • NM_015338.6:c.3747_3748delMANE SELECT
  • NP_001350663.1:p.Met1188fs
  • NP_056153.2:p.Met1249Ilefs
  • NP_056153.2:p.Met1249fs
  • LRG_630t1:c.3747_3748del
  • LRG_630:g.83116_83117del
  • NC_000020.10:g.31024262_31024263del
  • NM_015338.5:c.3747_3748del
  • NM_015338.5:c.3747_3748delGT
Protein change:
M1188fs
Molecular consequence:
  • NM_001363734.1:c.3564_3565del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015338.6:c.3747_3748del - frameshift variant - [Sequence Ontology: SO:0001589]

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
Name:
Myelodysplastic syndrome (MDS)
Synonyms:
MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO; Myelodysplastic syndrome, somatic; Myelodysplastic syndromes
Identifiers:
MONDO: MONDO:0018881; MeSH: D009190; MedGen: C3463824; Orphanet: 52688; OMIM: 614286

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004697791Molecular Genetics Lab, CHRU Brest
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicmaternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical 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 Molecular Genetics Lab, CHRU Brest, SCV004697791.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024