U.S. flag

An official website of the United States government

NM_015338.6(ASXL1):c.3915T>G (p.Phe1305Leu) AND Bohring-Opitz syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 16, 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:
RCV002227804.1

Allele description [Variation Report for NM_015338.6(ASXL1):c.3915T>G (p.Phe1305Leu)]

NM_015338.6(ASXL1):c.3915T>G (p.Phe1305Leu)

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.3915T>G (p.Phe1305Leu)
HGVS:
  • NC_000020.11:g.32436627T>G
  • NG_027868.1:g.83284T>G
  • NM_001363734.1:c.3732T>G
  • NM_015338.6:c.3915T>GMANE SELECT
  • NP_001350663.1:p.Phe1244Leu
  • NP_056153.2:p.Phe1305Leu
  • LRG_630t1:c.3915T>G
  • LRG_630:g.83284T>G
  • NC_000020.10:g.31024430T>G
  • NM_015338.5:c.3915T>G
Protein change:
F1244L
Links:
dbSNP: rs2145389443
NCBI 1000 Genomes Browser:
rs2145389443
Molecular consequence:
  • NM_001363734.1:c.3732T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015338.6:c.3915T>G - missense variant - [Sequence Ontology: SO:0001583]
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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002506929New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Apr 16, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002506929.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023