NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 9, 2024
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:: RCV004764764.1

Allele description [Variation Report for NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)]

NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.1

Genomic location:

Preferred name:

NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)

Other names:

p.N405K:AAC>AAA

HGVS:

NC_000022.11:g.28695754G>T
NG_008150.2:g.51113C>A
NM_001005735.2:c.1344C>A
NM_001257387.2:c.552C>A
NM_001349956.2:c.1014C>A
NM_007194.4:c.1215C>AMANE SELECT
NM_145862.2:c.1128C>A
NP_001005735.1:p.Asn448Lys
NP_001244316.1:p.Asn184Lys
NP_001336885.1:p.Asn338Lys
NP_009125.1:p.Asn405Lys
NP_665861.1:p.Asn376Lys
LRG_302t1:c.1215C>A
LRG_302:g.51113C>A
LRG_302p1:p.Asn405Lys
NC_000022.10:g.29091742G>T
NG_008150.1:g.51081C>A
NM_007194.3:c.1215C>A

Protein change:

N184K

Links:

dbSNP: rs587780171

NCBI 1000 Genomes Browser:

rs587780171

Molecular consequence:

NM_001005735.2:c.1344C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001257387.2:c.552C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349956.2:c.1014C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007194.4:c.1215C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_145862.2:c.1128C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005374638	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 9, 2024)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005374638

German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 9, 2024)

germline

curation

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	not provided	not provided	not provided	not provided	not provided	not provided	curation

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 German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV005374638.1

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

Description

According to the ACMG SVI adaptation criteria we chose this criterion: BP4 (strong benign): REVEL (aus Alamut): 0.009 ((0.003, 0.016]) --> BP4_strong (Pejaver et al., 2022) strength?

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

Last Updated: Oct 20, 2024

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