NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000507030.1

Allele description [Variation Report for NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)]

NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
HGVS:
  • NC_000022.11:g.28725270G>T
  • NG_008150.1:g.21565C>A
  • NG_008150.2:g.21597C>A
  • NM_001005735.2:c.546C>A
  • NM_001257387.2:c.-361C>A
  • NM_001349956.2:c.417C>A
  • NM_007194.4:c.417C>AMANE SELECT
  • NM_145862.2:c.417C>A
  • NP_001005735.1:p.Tyr182Ter
  • NP_001336885.1:p.Tyr139Ter
  • NP_009125.1:p.Tyr139Ter
  • NP_665861.1:p.Tyr139Ter
  • LRG_302t1:c.417C>A
  • LRG_302:g.21597C>A
  • LRG_302p1:p.Tyr139Ter
  • NC_000022.10:g.29121258G>T
  • NM_007194.3:c.417C>A
  • p.Tyr139*
Protein change:
Y139*
Links:
dbSNP: rs200917541
NCBI 1000 Genomes Browser:
rs200917541
Molecular consequence:
  • NM_001257387.2:c.-361C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001005735.2:c.546C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001349956.2:c.417C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007194.4:c.417C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_145862.2:c.417C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000601167Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Jun 28, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601167.1

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

Last Updated: Sep 7, 2021

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