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

Recent activity

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Rattus norvegicus transmembrane protein 263 (Tmem263), mRNA
Rattus norvegicus transmembrane protein 263 (Tmem263), mRNA
gi|2023613587|ref|NM_001108739.2|

Nucleotide
Rattus norvegicus profilin 3 (Pfn3), mRNA
Rattus norvegicus profilin 3 (Pfn3), mRNA
gi|157823462|ref|NM_001109487.1|

Nucleotide
PREDICTED: Monodelphis domestica prostaglandin E synthase (PTGES), transcript va...
PREDICTED: Monodelphis domestica prostaglandin E synthase (PTGES), transcript variant X6, mRNA
gi|2514250265|ref|XM_056812532.1|

Nucleotide
Ulva intestinalis voucher SV_732 elongation factor Tu (tufA) gene, partial cds; ...
Ulva intestinalis voucher SV_732 elongation factor Tu (tufA) gene, partial cds; chloroplast
gi|2327614392|gb|OP268100.1|

Nucleotide
Ulva intestinalis voucher SV_637 elongation factor Tu (tufA) gene, partial cds; ...
Ulva intestinalis voucher SV_637 elongation factor Tu (tufA) gene, partial cds; chloroplast
gi|2327614290|gb|OP268049.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000669298	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 27, 2022)	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

SCV000669298

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 27, 2022)

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

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	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

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