U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.3504G>T (p.Met1168Ile) AND Metastatic pancreatic neuroendocrine tumours

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2017
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:
RCV000515524.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3504G>T (p.Met1168Ile)]

NM_000059.4(BRCA2):c.3504G>T (p.Met1168Ile)

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.3504G>T (p.Met1168Ile)
HGVS:
  • NC_000013.11:g.32337859G>T
  • NG_012772.3:g.27380G>T
  • NM_000059.4:c.3504G>TMANE SELECT
  • NP_000050.3:p.Met1168Ile
  • LRG_293t1:c.3504G>T
  • LRG_293:g.27380G>T
  • NC_000013.10:g.32911996G>T
  • NM_000059.3:c.3504G>T
Protein change:
M1168I
Links:
dbSNP: rs1555283267
NCBI 1000 Genomes Browser:
rs1555283267
Molecular consequence:
  • NM_000059.4:c.3504G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Metastatic pancreatic neuroendocrine tumours
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611148Genome Sciences Centre, British Columbia Cancer Agency
no assertion criteria provided
Likely pathogenic
(Nov 1, 2017) 		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnonot providednot providednot providednot providednot providedresearch

Details of each submission

From Genome Sciences Centre, British Columbia Cancer Agency, SCV000611148.1

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

Last Updated: Sep 1, 2024