NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) AND Multiple exostoses type 2

Clinical significance:Benign/Likely benign (Last evaluated: Nov 28, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000988531.4

Allele description [Variation Report for NM_000401.3(EXT2):c.809C>T (p.Ser270Leu)]

NM_000401.3(EXT2):c.809C>T (p.Ser270Leu)

Gene:
EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu)
HGVS:
  • NC_000011.10:g.44114268C>T
  • NG_007560.1:g.23720C>T
  • NM_000401.3:c.809C>T
  • NM_001178083.2:c.710C>T
  • NM_207122.1:c.710C>T
  • NP_000392.3:p.Ser270Leu
  • NP_001171554.1:p.Ser237Leu
  • NP_997005.1:p.Ser237Leu
  • LRG_494t1:c.809C>T
  • LRG_494t2:c.710C>T
  • LRG_494:g.23720C>T
  • LRG_494p1:p.Ser270Leu
  • LRG_494p2:p.Ser237Leu
  • NC_000011.9:g.44135818C>T
Protein change:
S237L
Links:
dbSNP: rs139525250
NCBI 1000 Genomes Browser:
rs139525250
Molecular consequence:
  • NM_000401.3:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178083.2:c.710C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_207122.1:c.710C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple exostoses 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000371834Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

Citation Link,

SCV001001497Invitaecriteria provided, single submitter
Benign
(Nov 28, 2020)
germlineclinical testing

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

SCV001138279Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000371834.3

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

From Invitae, SCV001001497.3

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

From Mendelics, SCV001138279.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 25, 2021

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