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NM_207122.2(EXT2):c.124A>G (p.Met42Val) AND Exostoses, multiple, type 1

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 7, 2023
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:
RCV003315753.1

Allele description [Variation Report for NM_207122.2(EXT2):c.124A>G (p.Met42Val)]

NM_207122.2(EXT2):c.124A>G (p.Met42Val)

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.124A>G (p.Met42Val)
HGVS:
  • NC_000011.10:g.44107836A>G
  • NG_007560.1:g.17288A>G
  • NM_000401.3:c.223A>G
  • NM_001178083.3:c.124A>G
  • NM_001389628.1:c.124A>G
  • NM_001389630.1:c.124A>G
  • NM_207122.2:c.124A>GMANE SELECT
  • NP_000392.3:p.Met75Val
  • NP_001171554.1:p.Met42Val
  • NP_001376557.1:p.Met42Val
  • NP_001376559.1:p.Met42Val
  • NP_997005.1:p.Met42Val
  • NP_997005.1:p.Met42Val
  • LRG_494t1:c.223A>G
  • LRG_494t2:c.124A>G
  • LRG_494:g.17288A>G
  • LRG_494p1:p.Met75Val
  • LRG_494p2:p.Met42Val
  • NC_000011.9:g.44129386A>G
  • NM_207122.1:c.124A>G
  • Q93063:p.Met42Val
Protein change:
M42V
Links:
UniProtKB: Q93063#VAR_033921; dbSNP: rs4755779
NCBI 1000 Genomes Browser:
rs4755779
Molecular consequence:
  • NM_000401.3:c.223A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178083.3:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001389628.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001389630.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_207122.2:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Exostoses, multiple, type 1 (EXT1)
Synonyms:
EXOSTOSES, MULTIPLE, TYPE I
Identifiers:
MONDO: MONDO:0007585; MedGen: CN263289; OMIM: 133700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004017520KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 7, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004017520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024