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NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) AND Malignant tumor of urinary bladder

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:
RCV003332099.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)]

NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)
HGVS:
  • NC_000013.11:g.32338466C>T
  • NG_012772.3:g.27987C>T
  • NM_000059.4:c.4111C>TMANE SELECT
  • NP_000050.2:p.Gln1371Ter
  • NP_000050.3:p.Gln1371Ter
  • LRG_293t1:c.4111C>T
  • LRG_293:g.27987C>T
  • LRG_293p1:p.Gln1371Ter
  • NC_000013.10:g.32912603C>T
  • NM_000059.3:c.4111C>T
  • U43746.1:n.4339C>T
  • p.Gln1371*
  • p.Q1371*
Nucleotide change:
4339C>T
Protein change:
Q1371*
Links:
dbSNP: rs80358659
NCBI 1000 Genomes Browser:
rs80358659
Molecular consequence:
  • NM_000059.4:c.4111C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Malignant tumor of urinary bladder
Synonyms:
Urinary bladder cancer; Urinary Bladder Neoplasms; Bladder cancer
Identifiers:
MONDO: MONDO:0001187; MedGen: C0005684; OMIM: 109800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004040501Laboratory of Urology, Hospital Clinic de Barcelona
no assertion criteria provided
Pathogenicsomaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Urology, Hospital Clinic de Barcelona, SCV004040501.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024