NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 20, 2019
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:: RCV001016305.4

Allele description [Variation Report for NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser)]

NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser)

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.268C>T (p.Pro90Ser)

HGVS:

NC_000022.11:g.28734454G>A
NG_008150.2:g.12413C>T
NM_001005735.2:c.268C>T
NM_001257387.2:c.-510C>T
NM_001349956.2:c.268C>T
NM_007194.4:c.268C>TMANE SELECT
NM_145862.2:c.268C>T
NP_001005735.1:p.Pro90Ser
NP_001336885.1:p.Pro90Ser
NP_009125.1:p.Pro90Ser
NP_665861.1:p.Pro90Ser
LRG_302t1:c.268C>T
LRG_302:g.12413C>T
LRG_302p1:p.Pro90Ser
NC_000022.10:g.29130442G>A
NG_008150.1:g.12381C>T
NM_007194.3:c.268C>T

Protein change:

P90S

Links:

dbSNP: rs777588170

NCBI 1000 Genomes Browser:

rs777588170

Molecular consequence:

NM_001257387.2:c.-510C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001005735.2:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001349956.2:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007194.4:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_145862.2:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Homo sapiens family with sequence similarity 185, member A, mRNA (cDNA clone IMA...
Homo sapiens family with sequence similarity 185, member A, mRNA (cDNA clone IMAGE:5182278), complete cds
gi|20810532|gb|BC029175.1|

Nucleotide
Enterochromaffin-like Cells
Enterochromaffin-like Cells
Neuroendocrine cells in the glands of the GASTRIC MUCOSA. They produce HISTAMINE and peptides such as CHROMOGRANINS. ECL cells respond to GASTRIN by releasing histamine which ...<br/>Year introduced: 1998

MeSH
Empyema, Subdural
Empyema, Subdural
An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID....<br/>Year introduced: 1995(1984)

MeSH
Radiation Protection
Radiation Protection
Methods and practices adopted to protect against RADIATION.<br/>

MeSH
Marine Toxins
Marine Toxins
Toxic or poisonous substances elaborated by marine flora or fauna. They include also specific, characterized poisons or toxins for which there is no more specific heading, lik...<br/>Year introduced: 1974

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001177248	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 20, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001177248

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 20, 2019)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]

PMID:: 30287823
PMCID:: PMC6172276

Details of each submission

From Ambry Genetics, SCV001177248.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.P90S variant (also known as c.268C>T), located in coding exon 1 of the CHEK2 gene, results from a C to T substitution at nucleotide position 268. The proline at codon 90 is replaced by serine, an amino acid with similar properties. This alteration has been reported with a carrier frequency of 0.00014 in 7051 unselected breast cancer patients and 0.00009 in 11241 female controls of Japanese ancestry (Momozawa Y et al. Nat Commun, 2018 10;9:4083). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine