NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del) AND Familial cancer of breast

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 27, 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:: RCV000812426.7

Allele description

NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del)

HGVS:

NC_000022.11:g.28694093AAC[1]
NG_008150.2:g.52770TTG[1]
NM_001005735.2:c.1525TTG[1]
NM_001257387.2:c.733TTG[1]
NM_001349956.2:c.1195TTG[1]
NM_007194.4:c.1396TTG[1]MANE SELECT
NM_145862.2:c.1309TTG[1]
NP_001005735.1:p.Leu510del
NP_001244316.1:p.Leu246del
NP_001336885.1:p.Leu400del
NP_009125.1:p.Leu467del
NP_665861.1:p.Leu438del
LRG_302t1:c.1396TTG[1]
LRG_302:g.52770TTG[1]
LRG_302p1:p.Leu467del
NC_000022.10:g.29090080_29090082del
NC_000022.10:g.29090081AAC[1]
NM_007194.3:c.1399_1401del
NM_007194.3:c.1399_1401delTTG

Protein change:

L246del

Links:

dbSNP: rs876658456

NCBI 1000 Genomes Browser:

rs876658456

Molecular consequence:

NM_001005735.2:c.1525TTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001257387.2:c.733TTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001349956.2:c.1195TTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007194.4:c.1396TTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_145862.2:c.1309TTG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000952737	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 27, 2023)	germline	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

SCV000952737

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 27, 2023)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000952737.6

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

Description

This variant, c.1399_1401del, results in the deletion of 1 amino acid(s) of the CHEK2 protein (p.Leu467del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 230233). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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 8, 2024

ClinVar

Relating variation to medicine