NM_007194.4(CHEK2):c.78_79del (p.Gln27fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV001730208.1

Allele description [Variation Report for NM_007194.4(CHEK2):c.78_79del (p.Gln27fs)]

NM_007194.4(CHEK2):c.78_79del (p.Gln27fs)

Gene:

CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.78_79del (p.Gln27fs)

HGVS:

NC_000022.11:g.28734644_28734645del
NG_008150.2:g.12223_12224del
NM_001005735.2:c.78_79del
NM_001257387.2:c.-700_-699del
NM_001349956.2:c.78_79del
NM_007194.4:c.78_79delMANE SELECT
NM_145862.2:c.78_79del
NP_001005735.1:p.Gln27fs
NP_001336885.1:p.Gln27fs
NP_009125.1:p.Gln27fs
NP_665861.1:p.Gln27fs
LRG_302t1:c.78_79del
LRG_302:g.12223_12224del
LRG_302p1:p.Gln27fs
NC_000022.10:g.29130632_29130633del

Protein change:

Q27fs

Links:

dbSNP: rs2146153237

NCBI 1000 Genomes Browser:

rs2146153237

Molecular consequence:

NM_001257387.2:c.-700_-699del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001005735.2:c.78_79del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349956.2:c.78_79del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007194.4:c.78_79del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145862.2:c.78_79del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens ADCYAP receptor type I (ADCYAP1R1), transcript variant 3, mRNA
Homo sapiens ADCYAP receptor type I (ADCYAP1R1), transcript variant 3, mRNA
gi|1677498459|ref|NM_001118.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001977765	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001977813	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001977765

Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Pathogenic

germline

clinical testing

SCV001977813

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Pathogenic

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001977765.1

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

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001977813.1

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

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

Last Updated: Dec 24, 2023

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