NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs) AND Familial cancer of breast

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Mar 6, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003337017.3

Allele description [Variation Report for NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)]

NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)

HGVS:

NC_000022.11:g.28699929_28699930dup
NG_008150.2:g.46940_46941dup
NM_001005735.2:c.1048_1049dup
NM_001257387.2:c.256_257dup
NM_001349956.2:c.718_719dup
NM_007194.4:c.919_920dupMANE SELECT
NM_145862.2:c.919_920dup
NP_001005735.1:p.Leu352fs
NP_001244316.1:p.Leu88fs
NP_001336885.1:p.Leu242fs
NP_009125.1:p.Leu309fs
NP_665861.1:p.Leu309fs
LRG_302t1:c.919_920dup
LRG_302:g.46940_46941dup
LRG_302p1:p.Leu309fs
NC_000022.10:g.29095917_29095918dup

Protein change:

L242fs

Molecular consequence:

NM_001005735.2:c.1048_1049dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257387.2:c.256_257dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349956.2:c.718_719dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007194.4:c.919_920dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145862.2:c.919_920dup - 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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Mus musculus gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 (Gabrg2)...
Mus musculus gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 (Gabrg2), transcript variant 2, mRNA
gi|146198542|ref|NM_177408.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004044468	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Jun 27, 2023)	unknown	clinical testing	Citation Link,
SCV005058357	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 6, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004044468

Myriad Genetics, Inc.

criteria provided, single submitter

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

Pathogenic
(Jun 27, 2023)

unknown

clinical testing

Citation Link,

SCV005058357

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 6, 2024)

unknown

clinical testing

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

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Myriad Genetics, Inc., SCV004044468.2

#	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

From Baylor Genetics, SCV005058357.1

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

#	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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