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NM_207122.2(EXT2):c.452G>C (p.Cys151Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 2022
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:
RCV002826401.2

Allele description [Variation Report for NM_207122.2(EXT2):c.452G>C (p.Cys151Ser)]

NM_207122.2(EXT2):c.452G>C (p.Cys151Ser)

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.452G>C (p.Cys151Ser)
HGVS:
  • NC_000011.10:g.44108164G>C
  • NG_007560.1:g.17616G>C
  • NM_000401.3:c.551G>C
  • NM_001178083.3:c.452G>C
  • NM_001389628.1:c.452G>C
  • NM_001389630.1:c.452G>C
  • NM_207122.2:c.452G>CMANE SELECT
  • NP_000392.3:p.Cys184Ser
  • NP_001171554.1:p.Cys151Ser
  • NP_001376557.1:p.Cys151Ser
  • NP_001376559.1:p.Cys151Ser
  • NP_997005.1:p.Cys151Ser
  • NP_997005.1:p.Cys151Ser
  • LRG_494t1:c.551G>C
  • LRG_494t2:c.452G>C
  • LRG_494:g.17616G>C
  • LRG_494p1:p.Cys184Ser
  • LRG_494p2:p.Cys151Ser
  • NC_000011.9:g.44129714G>C
  • NM_207122.1:c.452G>C
Protein change:
C151S
Molecular consequence:
  • NM_000401.3:c.551G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178083.3:c.452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001389628.1:c.452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001389630.1:c.452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_207122.2:c.452G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003599187Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 26, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003599187.2

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

Description

The c.452G>C (p.C151S) alteration is located in exon 2 (coding exon 1) of the EXT2 gene. This alteration results from a G to C substitution at nucleotide position 452, causing the cysteine (C) at amino acid position 151 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024