NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Breast carcinoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 20, 2021
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:: RCV001574072.9

Allele description [Variation Report for NM_002485.5(NBN):c.657_661del (p.Lys219fs)]

NM_002485.5(NBN):c.657_661del (p.Lys219fs)

Gene:

NBN:nibrin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q21.3

Genomic location:

Preferred name:

NM_002485.5(NBN):c.657_661del (p.Lys219fs)

Other names:

657del5

HGVS:

NC_000008.10:g.90983445_90983449delGTTTT
NC_000008.11:g.89971217_89971221del
NG_008860.1:g.18454_18458del
NM_001024688.3:c.411_415del
NM_002485.5:c.657_661delMANE SELECT
NP_001019859.1:p.Lys137fs
NP_002476.2:p.Lys219fs
LRG_158:g.18454_18458del
NC_000008.10:g.90983442_90983446del
NC_000008.10:g.90983442_90983446delTTTGT
NC_000008.10:g.90983445_90983449del
NC_000008.10:g.90983445_90983449del
NC_000008.10:g.90983445_90983449delGTTTT
NM_002485.4:c.657_661delACAAA
NM_002485.5:c.657_661delACAAAMANE SELECT
NP_002476.2:p.Lys219AsnfsTer15
p.K219NFS*16
p.K219NfsX16
p.Lys219AsnfsX16

Protein change:

K137fs

Links:

OMIM: 602667.0001; dbSNP: rs587776650

NCBI 1000 Genomes Browser:

rs587776650

Molecular consequence:

NM_001024688.3:c.411_415del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002485.5:c.657_661del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Breast carcinoma
Synonyms:: Carcinoma of breast
Identifiers:: MONDO: MONDO:0004989; MedGen: C0678222; Human Phenotype Ontology: HP:0003002

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
SCV001797297	Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	no assertion criteria provided	Pathogenic (Aug 20, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001797297

Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences

no assertion criteria provided

Pathogenic
(Aug 20, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, SCV001797297.1

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

Description

Invasive Ductal Carcinoma Estrogen Receptor: Positive Progesterone Receptor: Positive HER2 Receptor: Positive

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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine