NM_007194.4(CHEK2):c.304_307del (p.Gly102fs) AND Familial cancer of breast

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 12, 2017
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:: RCV000576340.3

Allele description [Variation Report for NM_007194.4(CHEK2):c.304_307del (p.Gly102fs)]

NM_007194.4(CHEK2):c.304_307del (p.Gly102fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.304_307del (p.Gly102fs)

HGVS:

NC_000022.11:g.28734415ATCC[1]
NG_008150.2:g.12445GGAT[1]
NM_001005735.2:c.304_307del
NM_001257387.2:c.-478GGAT[1]
NM_001349956.2:c.304_307del
NM_007194.4:c.304_307delMANE SELECT
NM_145862.2:c.304_307del
NP_001005735.1:p.Gly102fs
NP_001336885.1:p.Gly102fs
NP_009125.1:p.Gly102fs
NP_665861.1:p.Gly102fs
LRG_302t1:c.304_307del
LRG_302:g.12445GGAT[1]
LRG_302p1:p.Gly102fs
NC_000022.10:g.29130403ATCC[1]
NM_007194.3:c.304_307delGGAT

Protein change:

G102fs

Links:

dbSNP: rs1555932071

NCBI 1000 Genomes Browser:

rs1555932071

Molecular consequence:

NM_001257387.2:c.-478GGAT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001005735.2:c.304_307del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349956.2:c.304_307del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007194.4:c.304_307del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145862.2:c.304_307del - 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
SCV000677896	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely pathogenic (May 12, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000677896

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely pathogenic
(May 12, 2017)

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 Counsyl, SCV000677896.2

#	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	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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