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NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Breast and/or ovarian cancer

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 11, 2019
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:
RCV001270991.9

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:
12

Condition(s)

Name:
Breast and/or ovarian cancer
Identifiers:
MedGen: CN221562

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451803CZECANCA consortium
no assertion criteria provided
Pathogenic
(Jun 11, 2019) 		germlinecase-control, clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Slavicgermlineno1not providednot providednot providednot providedcase-control
Slavicgermlineyes12not providednot providednot providednot providedclinical testing

Citations

PubMed

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.

PubMed [citation]
PMID:
32295079
PMCID:
PMC7226062

Details of each submission

From CZECANCA consortium, SCV001451803.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Slavic1not providednot providedcase-control PubMed (1)
2Slavic12not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided12not providednot providednot provided

Last Updated: Nov 3, 2024