NM_001370259.2(MEN1):c.783+1G>A AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000491531.2

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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000579745Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jan 2, 2018)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

Morelli A, Falchetti A, Martineti V, Becherini L, Mark M, Friedman E, Brandi ML.

Eur J Endocrinol. 2000 Feb;142(2):131-7.

PubMed [citation]
PMID:
10664520

Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1.

Wen Z, Liao Q, Hu Y, Zhao Y.

Arq Bras Endocrinol Metabol. 2012 Apr;56(3):184-9.

PubMed [citation]
PMID:
22666734
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000579745.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

The c.783+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide after coding exon 3 of the MEN1 gene. This alteration has been reported in two unrelated individuals with a clinical diagnosis of MEN1 (Morelli A et al. Eur. J. Endocrinol. 2000 Feb;142:131-7; Wen Z et al. Arq Bras Endocrinol Metabol. 2012 Apr;56:184-9). Furthermore, two different alterations at this same nucleotide position (c.783+1G>T, c.783+1G>C) have also been reported in patients with MEN1 (Giraud S et al. Am. J. Hum. Genet. 1998 Aug;63:455-67; Poncin J et al. Hum. Mutat. 1999;13:54-60). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2021

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