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NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val) AND Bohring-Opitz syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 5, 2021
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:
RCV002259640.1

Allele description [Variation Report for NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val)]

NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val)

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.3745A>G (p.Met1249Val)
HGVS:
  • NC_000020.11:g.32436457A>G
  • NG_027868.1:g.83114A>G
  • NM_001363734.1:c.3562A>G
  • NM_015338.6:c.3745A>GMANE SELECT
  • NP_001350663.1:p.Met1188Val
  • NP_056153.2:p.Met1249Val
  • NP_056153.2:p.Met1249Val
  • LRG_630t1:c.3745A>G
  • LRG_630:g.83114A>G
  • LRG_630p1:p.Met1249Val
  • NC_000020.10:g.31024260A>G
  • NM_015338.5:c.3745A>G
Protein change:
M1188V
Links:
dbSNP: rs146141075
NCBI 1000 Genomes Browser:
rs146141075
Molecular consequence:
  • NM_001363734.1:c.3562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015338.6:c.3745A>G - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002539538Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Dec 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002539538.1

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

Last Updated: Sep 29, 2024