NM_007194.4(CHEK2):c.117_132del (p.Ser40fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 22, 2023
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:: RCV003337085.2

Allele description [Variation Report for NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)]

NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)

HGVS:

NC_000022.11:g.28734591_28734606del
NG_008150.2:g.12262_12277del
NM_001005735.2:c.117_132del
NM_001257387.2:c.-661_-646del
NM_001349956.2:c.117_132del
NM_007194.4:c.117_132delMANE SELECT
NM_145862.2:c.117_132del
NP_001005735.1:p.Ser40fs
NP_001336885.1:p.Ser40fs
NP_009125.1:p.Ser40fs
NP_665861.1:p.Ser40fs
LRG_302t1:c.117_132del
LRG_302:g.12262_12277del
LRG_302p1:p.Ser40fs
NC_000022.10:g.29130579_29130594del

Protein change:

S40fs

Molecular consequence:

NM_001257387.2:c.-661_-646del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001005735.2:c.117_132del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349956.2:c.117_132del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007194.4:c.117_132del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145862.2:c.117_132del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004044619	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jun 22, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004044619

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Jun 22, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004044619.2

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 8, 2024

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