NM_000401.3(EXT2):c.619A>C (p.Met207Leu) AND not specified

Clinical significance:Benign (Last evaluated: Mar 31, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000120881.2

Allele description [Variation Report for NM_000401.3(EXT2):c.619A>C (p.Met207Leu)]

NM_000401.3(EXT2):c.619A>C (p.Met207Leu)

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.619A>C (p.Met207Leu)
HGVS:
  • NC_000011.10:g.44108232A>C
  • NG_007560.1:g.17684A>C
  • NM_000401.3:c.619A>C
  • NM_001178083.2:c.520A>C
  • NM_207122.1:c.520A>C
  • NP_000392.3:p.Met207Leu
  • NP_001171554.1:p.Met174Leu
  • NP_997005.1:p.Met174Leu
  • LRG_494t1:c.619A>C
  • LRG_494t2:c.520A>C
  • LRG_494:g.17684A>C
  • LRG_494p1:p.Met207Leu
  • LRG_494p2:p.Met174Leu
  • NC_000011.9:g.44129782A>C
Protein change:
M174L
Links:
dbSNP: rs111589746
NCBI 1000 Genomes Browser:
rs111589746
Molecular consequence:
  • NM_000401.3:c.619A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178083.2:c.520A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_207122.1:c.520A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000085049ITMIno assertion providednot providedgermlinereference population

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

SCV000340836EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Mar 31, 2016)
germlineclinical testing

Citation Link

Description

Please see associated publication for description of ethnicities

SCV000085049

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
Africangermlineunknownnot providednot providednot provided43not providedreference population
African_Europeangermlineunknownnot providednot providednot provided46not providedreference population
Central_Asiangermlineunknownnot providednot providednot provided50not providedreference population
East_Asiangermlineunknownnot providednot providednot provided62not providedreference population
Europeangermlineunknownnot providednot providednot provided331not providedreference population
Hispanicgermlineunknownnot providednot providednot provided118not providedreference population
Whole_cohortgermlineunknownnot providednot providednot provided681not providedreference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]
PMID:
24728327
PMCID:
PMC3984285

Details of each submission

From ITMI, SCV000085049.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Africannot providednot providednot providedreference population PubMed (1)
2African_Europeannot providednot providednot providedreference population PubMed (1)
3Central_Asiannot providednot providednot providedreference population PubMed (1)
4East_Asiannot providednot providednot providedreference population PubMed (1)
5Europeannot providednot providednot providedreference population PubMed (1)
6Hispanicnot providednot providednot providedreference population PubMed (1)
7Whole_cohortnot providednot providednot providedreference population PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown43not provideddiscoverynot provided0not providednot provided
2germlineunknown46not provideddiscoverynot provided0not providednot provided
3germlineunknown50not provideddiscoverynot provided0not providednot provided
4germlineunknown62not provideddiscoverynot provided0not providednot provided
5germlineunknown331not provideddiscoverynot provided0.0015not providednot provided
6germlineunknown118not provideddiscoverynot provided0not providednot provided
7germlineunknown681not provideddiscoverynot provided0.0007not providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000340836.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 14, 2021

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