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NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Carcinoma of pancreas

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 4, 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:
RCV001391203.9

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:
3

Condition(s)

Name:
Carcinoma of pancreas
Synonyms:
PANCREATIC ACINAR CARCINOMA; PANCREATIC CARCINOMA; Pancreatic cancer, somatic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005192; MeSH: C562463; MedGen: C0235974; Orphanet: 1333

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001593146CZECANCA consortium
no assertion criteria provided
Pathogenic
(Mar 4, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Slavicgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CZECANCA consortium, SCV001593146.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Slavic3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Nov 3, 2024