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NM_007194.4(CHEK2):c.87_107dup (p.Ser31_Gly37dup) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2022
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:
RCV000568904.4

Allele description [Variation Report for NM_007194.4(CHEK2):c.87_107dup (p.Ser31_Gly37dup)]

NM_007194.4(CHEK2):c.87_107dup (p.Ser31_Gly37dup)

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.87_107dup (p.Ser31_Gly37dup)
HGVS:
  • NC_000022.11:g.28734623_28734643dup
  • NG_008150.2:g.12232_12252dup
  • NM_001005735.2:c.87_107dup
  • NM_001257387.2:c.-691_-671dup
  • NM_001349956.2:c.87_107dup
  • NM_007194.4:c.87_107dupMANE SELECT
  • NM_145862.2:c.87_107dup
  • NP_001005735.1:p.Ser31_Gly37dup
  • NP_001336885.1:p.Ser31_Gly37dup
  • NP_009125.1:p.Ser31_Gly37dup
  • NP_665861.1:p.Ser31_Gly37dup
  • LRG_302t1:c.87_107dup
  • LRG_302:g.12232_12252dup
  • LRG_302p1:p.Ser31_Gly37dup
  • NC_000022.10:g.29130602_29130603insTGGGACTGTGAGGAGGAGCCT
  • NC_000022.10:g.29130611_29130631dup
  • NG_008150.1:g.12200_12220dup
  • NM_007194.3:c.87_107dupAGGCTCCTCCTCACAGTCCCA
Links:
dbSNP: rs762863407
NCBI 1000 Genomes Browser:
rs762863407
Molecular consequence:
  • NM_001257387.2:c.-691_-671dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001005735.2:c.87_107dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001349956.2:c.87_107dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_007194.4:c.87_107dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_145862.2:c.87_107dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV000669298Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 27, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro.

Matsuoka S, Rotman G, Ogawa A, Shiloh Y, Tamai K, Elledge SJ.

Proc Natl Acad Sci U S A. 2000 Sep 12;97(19):10389-94.

PubMed [citation]
PMID:
10973490
PMCID:
PMC27034

Details of each submission

From Ambry Genetics, SCV000669298.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.87_107dup21 variant (also known as p.S31_G37dup), located in coding exon 1 of the CHEK2 gene, results from an in-frame duplication of 21 nucleotides at nucleotide positions 87 to 107. This results in the duplication of 7 extra residues (SSSQSQG) between codons 31 and 37. This duplication is located in the SQ/TQ cluster domain of the CHEK2 gene (Matsuoka S, et al. Proc. Natl. Acad. Sci. U.S.A. 2000 Sep; 97(19):10389-94). These amino acid positions are well conserved in available vertebrate species. 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