NM_001370259.2(MEN1):c.783+1G>A AND Metastatic pancreatic neuroendocrine tumours

Clinical significance:Likely pathogenic (Last evaluated: Nov 1, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000515529.1

Allele description [Variation Report for NM_001370259.2(MEN1):c.783+1G>A]

NM_001370259.2(MEN1):c.783+1G>A

Gene:
MEN1:menin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_001370259.2(MEN1):c.783+1G>A
HGVS:
  • NC_000011.10:g.64807551C>T
  • NG_008929.1:g.8744G>A
  • NG_033040.1:g.691G>A
  • NM_000244.3:c.798+1G>A
  • NM_001370251.1:c.783+1G>A
  • NM_001370259.2:c.783+1G>AMANE SELECT
  • NM_001370260.1:c.783+1G>A
  • NM_001370261.1:c.783+1G>A
  • NM_001370262.1:c.678+1G>A
  • NM_001370263.1:c.678+1G>A
  • NM_130799.2:c.783+1G>A
  • NM_130800.2:c.798+1G>A
  • NM_130801.2:c.798+1G>A
  • NM_130802.2:c.798+1G>A
  • NM_130803.2:c.798+1G>A
  • NM_130804.2:c.798+1G>A
  • LRG_509t1:c.798+1G>A
  • LRG_509t2:c.783+1G>A
  • LRG_509:g.8744G>A
  • NC_000011.9:g.64575023C>T
Links:
dbSNP: rs794728652
NCBI 1000 Genomes Browser:
rs794728652
Molecular consequence:
  • NM_000244.3:c.798+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370251.1:c.783+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370259.2:c.783+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370260.1:c.783+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370261.1:c.783+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370262.1:c.678+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370263.1:c.678+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130799.2:c.783+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130800.2:c.798+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130801.2:c.798+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130802.2:c.798+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130803.2:c.798+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130804.2:c.798+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Metastatic pancreatic neuroendocrine tumours
Identifiers:

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000611149Genome Sciences Centre, British Columbia Cancer Agencyno assertion criteria providedLikely pathogenic
(Nov 1, 2017)
somaticresearch

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, SCV000611149.1

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

Last Updated: Nov 10, 2021

Support Center