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NM_207122.2(EXT2):c.1079+1G>C AND Exostoses, multiple, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 29, 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:
RCV001281102.2

Allele description [Variation Report for NM_207122.2(EXT2):c.1079+1G>C]

NM_207122.2(EXT2):c.1079+1G>C

Gene:
EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_207122.2(EXT2):c.1079+1G>C
HGVS:
  • NC_000011.10:g.44126956G>C
  • NG_007560.1:g.36408G>C
  • NM_000401.3:c.1178+1G>C
  • NM_001178083.3:c.1079+1G>C
  • NM_001389628.1:c.1079+1G>C
  • NM_001389630.1:c.1079+1G>C
  • NM_207122.2:c.1079+1G>CMANE SELECT
  • LRG_494t1:c.1178+1G>C
  • LRG_494t2:c.1079+1G>C
  • LRG_494:g.36408G>C
  • NC_000011.9:g.44148506G>C
  • NM_207122.1:c.1079+1G>C
Links:
dbSNP: rs1369420640
NCBI 1000 Genomes Browser:
rs1369420640
Molecular consequence:
  • NM_000401.3:c.1178+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001178083.3:c.1079+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001389628.1:c.1079+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001389630.1:c.1079+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_207122.2:c.1079+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
effect on RNA splicing [Variation Ontology: 0362]
Observations:
1

Condition(s)

Name:
Exostoses, multiple, type 2 (EXT2)
Synonyms:
EXOSTOSES, MULTIPLE, TYPE II
Identifiers:
MONDO: MONDO:0007586; MedGen: C1851413; Orphanet: 321; OMIM: 133701

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451926Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 29, 2020) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand, SCV001451926.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

PVS1+PM2+PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024