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NM_007194.4(CHEK2):c.120CTC[1] (p.Ser42del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 21, 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:
RCV001010450.4

Allele description [Variation Report for NM_007194.4(CHEK2):c.120CTC[1] (p.Ser42del)]

NM_007194.4(CHEK2):c.120CTC[1] (p.Ser42del)

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.120CTC[1] (p.Ser42del)
HGVS:
  • NC_000022.11:g.28734597GAG[1]
  • NG_008150.2:g.12265CTC[1]
  • NM_001005735.2:c.120CTC[1]
  • NM_001257387.2:c.-658CTC[1]
  • NM_001349956.2:c.120CTC[1]
  • NM_007194.4:c.120CTC[1]MANE SELECT
  • NM_145862.2:c.120CTC[1]
  • NP_001005735.1:p.Ser42del
  • NP_001336885.1:p.Ser42del
  • NP_009125.1:p.Ser42del
  • NP_665861.1:p.Ser42del
  • LRG_302t1:c.120CTC[1]
  • LRG_302:g.12265CTC[1]
  • LRG_302p1:p.Ser42del
  • NC_000022.10:g.29130585GAG[1]
  • NC_000022.10:g.29130585_29130587del
  • NM_007194.3:c.123_125delCTC
Protein change:
S42del
Links:
dbSNP: rs1294840272
NCBI 1000 Genomes Browser:
rs1294840272
Molecular consequence:
  • NM_001257387.2:c.-658CTC[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001005735.2:c.120CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001349956.2:c.120CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007194.4:c.120CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_145862.2:c.120CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001170650Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 21, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001170650.4

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

Description

The c.123_125delCTC variant (also known as p.S42del) is located in coding exon 1 of the CHEK2 gene. This variant results from an in-frame CTC deletion at nucleotide positions 123 to 125. This results in the in-frame deletion of a serine at codon 42. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024