NM_001826.3(CKS1B):c.33del (p.Lys11fs) AND Breast neoplasm

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002285233.1

Allele description [Variation Report for NM_001826.3(CKS1B):c.33del (p.Lys11fs)]

NM_001826.3(CKS1B):c.33del (p.Lys11fs)

Genes:

SHC1:SHC adaptor protein 1 [Gene - OMIM - HGNC]
CKS1B:CDC28 protein kinase regulatory subunit 1B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_001826.3(CKS1B):c.33del (p.Lys11fs)

HGVS:

NC_000001.11:g.154974778del
NG_029028.1:g.4708del
NM_001826.3:c.33delMANE SELECT
NP_001817.1:p.Lys11fs
NC_000001.10:g.154947254del
NM_001826.3:c.33delAMANE SELECT
NR_024163.2:n.98del

Protein change:

K11fs

Molecular consequence:

NM_001826.3:c.33del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_024163.2:n.98del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Breast neoplasm
Synonyms:: Neoplasm of breast; Breast tumor; Neoplasm of the breast; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0021100; MeSH: D001943; MedGen: C1458155; Human Phenotype Ontology: HP:0100013

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002574992	Genomic Center, National Cancer Institute	no assertion criteria provided	Pathogenic	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002574992

Genomic Center, National Cancer Institute

no assertion criteria provided

Pathogenic

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	1	not provided	not provided	1	not provided	research

Details of each submission

From Genomic Center, National Cancer Institute, SCV002574992.1

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

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

Last Updated: Oct 1, 2022

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