NM_000244.3(MEN1):c.1028dupT (p.Gln344Alafs) AND Multiple endocrine neoplasia, type 1

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030191.1

Allele description [Variation Report for NM_000244.3(MEN1):c.1028dupT (p.Gln344Alafs)]

NM_000244.3(MEN1):c.1028dupT (p.Gln344Alafs)

Gene:
MEN1:menin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_000244.3(MEN1):c.1028dupT (p.Gln344Alafs)
HGVS:
  • NC_000011.10:g.64806268dupA
  • NG_008929.1:g.10027dupT
  • NM_000244.3:c.1028dupT
  • NM_130799.2:c.1013dupT
  • NP_000235.2:p.Gln344Alafs
  • NP_570711.1:p.Gln339Alafs
  • LRG_509t1:c.1028dupT
  • LRG_509t2:c.1013dupT
  • LRG_509:g.10027dupT
  • LRG_509p1:p.Gln344Alafs
  • LRG_509p2:p.Gln339Alafs
  • NC_000011.9:g.64573740dupA
  • p.Gln344AlafsX28
Links:
dbSNP: 386134245
NCBI 1000 Genomes Browser:
rs386134245
Molecular consequence:
  • NM_000244.3:c.1028dupT - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Multiple endocrine neoplasia, type 1 (MEN1)
Synonyms:
MEA I; MEN I
Identifiers:
MeSH: D018761; MedGen: C0025267; Orphanet: 652; OMIM: 131100

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
SCV000052857Laboratory Corporation of Americacriteria provided, single submitter
likely pathogenic
(Aug 18, 2011)
germlinecuration, clinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory Corporation of America, SCV000052857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteMEN1:c.1636A>G, MEN1:c.1314T>C, MEN1:c.-20G>A1

Last Updated: Oct 13, 2017