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NM_012200.4(B3GAT3):c.258-50A>G AND Larsen-like syndrome, B3GAT3 type

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 14, 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:
RCV001554209.2

Allele description [Variation Report for NM_012200.4(B3GAT3):c.258-50A>G]

NM_012200.4(B3GAT3):c.258-50A>G

Gene:
B3GAT3:beta-1,3-glucuronyltransferase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_012200.4(B3GAT3):c.258-50A>G
HGVS:
  • NC_000011.10:g.62617397T>C
  • NG_031863.1:g.9779A>G
  • NM_001288721.2:c.237-50A>G
  • NM_001288722.2:c.258-50A>G
  • NM_001288723.2:c.258-50A>G
  • NM_012200.4:c.258-50A>GMANE SELECT
  • NC_000011.9:g.62384869T>C
Links:
dbSNP: rs4963224
NCBI 1000 Genomes Browser:
rs4963224
Molecular consequence:
  • NM_001288721.2:c.237-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288722.2:c.258-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001288723.2:c.258-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_012200.4:c.258-50A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Larsen-like syndrome, B3GAT3 type
Synonyms:
LARSEN SYNDROME, AUTOSOMAL RECESSIVE; Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
Identifiers:
MONDO: MONDO:0009511; MedGen: C3278404; Orphanet: 284139; OMIM: 245600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001775433Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Jul 14, 2021)
germlineclinical testing

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

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, SCV001775433.1

#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