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NM_207122.2(EXT2):c.626+1G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 16, 2018
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:
RCV000599186.1

Allele description [Variation Report for NM_207122.2(EXT2):c.626+1G>A]

NM_207122.2(EXT2):c.626+1G>A

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.626+1G>A
HGVS:
  • NC_000011.10:g.44109284G>A
  • NG_007560.1:g.18736G>A
  • NM_000401.3:c.725+1G>A
  • NM_001178083.3:c.626+1G>A
  • NM_001389628.1:c.626+1G>A
  • NM_001389630.1:c.626+1G>A
  • NM_207122.2:c.626+1G>AMANE SELECT
  • LRG_494t1:c.725+1G>A
  • LRG_494t2:c.626+1G>A
  • LRG_494:g.18736G>A
  • NC_000011.9:g.44130834G>A
  • NM_207122.1:c.626+1G>A
Links:
dbSNP: rs1057521132
NCBI 1000 Genomes Browser:
rs1057521132
Molecular consequence:
  • NM_000401.3:c.725+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001178083.3:c.626+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001389628.1:c.626+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001389630.1:c.626+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_207122.2:c.626+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000709805GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Feb 16, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000709805.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.626+1 G>A splice site variant in the EXT2 gene has been previously reported in at least one individual with multiple exostoses (Vink et al., 2005; Wuyts et al., 2005). This variant destroys the canonical splice donor site in intron 3, and is expected to cause abnormal gene splicing. This variant is not observed in large population cohorts (Lek et al., 2016). Alternate nucleotide changes at the same position (c.626+1G>T, c.626+1G>C) have been reported in association with hereditary multiple exostoses (Lonie et al., 2006; Xu et al., 2017).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024