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NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483482.2

Allele description [Variation Report for NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)]

NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)

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.1525C>T (p.Pro509Ser)
Other names:
p.P509S:CCC>TCC
HGVS:
  • NC_000022.11:g.28689152G>A
  • NG_008150.2:g.57715C>T
  • NM_001005735.2:c.1654C>T
  • NM_001257387.2:c.862C>T
  • NM_001349956.2:c.1324C>T
  • NM_007194.4:c.1525C>TMANE SELECT
  • NM_145862.2:c.1438C>T
  • NP_001005735.1:p.Pro552Ser
  • NP_001244316.1:p.Pro288Ser
  • NP_001336885.1:p.Pro442Ser
  • NP_009125.1:p.Pro509Ser
  • NP_665861.1:p.Pro480Ser
  • LRG_302t1:c.1525C>T
  • LRG_302:g.57715C>T
  • LRG_302p1:p.Pro509Ser
  • NC_000022.10:g.29085140G>A
  • NM_007194.3:c.1525C>T
  • p.P509S
Protein change:
P288S
Links:
dbSNP: rs587780179
NCBI 1000 Genomes Browser:
rs587780179
Molecular consequence:
  • NM_001005735.2:c.1654C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257387.2:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349956.2:c.1324C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007194.4:c.1525C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145862.2:c.1438C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
BREAST CANCER, FAMILIAL; Hereditary breast cancer; hereditary breast carcinoma
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
Name:
Prostate cancer
Synonyms:
Malignant tumor of prostate
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; Human Phenotype Ontology: HP:0012125
Name:
Colorectal cancer
Synonyms:
Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Identifiers:
MONDO: MONDO:0005575; MedGen: C0346629; OMIM: 114500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228516GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228516.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 11-29-2018 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 5, 2025