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NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) 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:
RCV001391213.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)]

NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
Other names:
2034insA; 2041_2042insA; p.Ile605AsnfsX11
HGVS:
  • NC_000013.11:g.32333291dup
  • NG_012772.3:g.22812dup
  • NM_000059.4:c.1813dupMANE SELECT
  • NP_000050.3:p.Ile605fs
  • LRG_293:g.22812dup
  • NC_000013.10:g.32907420_32907421insA
  • NC_000013.10:g.32907428dup
  • NM_000059.3:c.1806dupA
  • NM_000059.3:c.1813dupA
  • NM_000059.4:c.1813dupA
  • U43746.1:n.2034_2035insA
  • U43746.1:n.2041_2042insA
  • p.I605NFS*11
  • p.I605NfsX11
  • p.Ile605Asnfs*11
Nucleotide change:
2040insA
Protein change:
I605fs
Links:
Breast Cancer Information Core (BIC) (BRCA2): 2034&base_change=ins A; Breast Cancer Information Core (BIC) (BRCA2): 2041&base_change=ins A; dbSNP: rs80359306
NCBI 1000 Genomes Browser:
rs80359306
Molecular consequence:
  • NM_000059.4:c.1813dup - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

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
SCV001593129CZECANCA consortium
no assertion criteria provided
Pathogenic
(Mar 4, 2021) 		germlinecase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Slavicgermlineyes1not providednot providednot providednot providedcase-control

Details of each submission

From CZECANCA consortium, SCV001593129.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Slavic1not providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024