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NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 29, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000182425.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)]

NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)

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.1660C>T (p.Gln554Ter)
Other names:
p.Q554*:CAG>TAG
HGVS:
  • NC_000011.10:g.64804507G>A
  • NG_008929.1:g.11788C>T
  • NG_033040.1:g.3735C>T
  • NM_000244.4:c.1675C>T
  • NM_001370251.2:c.1786C>T
  • NM_001370259.2:c.1660C>TMANE SELECT
  • NM_001370260.2:c.1660C>T
  • NM_001370261.2:c.1660C>T
  • NM_001370262.2:c.1555C>T
  • NM_001370263.2:c.1555C>T
  • NM_130799.3:c.1660C>T
  • NM_130800.3:c.1675C>T
  • NM_130801.3:c.1675C>T
  • NM_130802.3:c.1675C>T
  • NM_130803.3:c.1675C>T
  • NM_130804.3:c.1675C>T
  • NP_000235.3:p.Gln559Ter
  • NP_001357180.2:p.Gln596Ter
  • NP_001357188.2:p.Gln554Ter
  • NP_001357189.2:p.Gln554Ter
  • NP_001357190.2:p.Gln554Ter
  • NP_001357191.2:p.Gln519Ter
  • NP_001357192.2:p.Gln519Ter
  • NP_570711.1:p.Gln554Ter
  • NP_570711.2:p.Gln554Ter
  • NP_570712.1:p.Gln559Ter
  • NP_570712.2:p.Gln559Ter
  • NP_570713.2:p.Gln559Ter
  • NP_570714.2:p.Gln559Ter
  • NP_570715.2:p.Gln559Ter
  • NP_570716.2:p.Gln559Ter
  • LRG_509t2:c.1660C>T
  • LRG_509:g.11788C>T
  • LRG_509p2:p.Gln554Ter
  • NC_000011.9:g.64571979G>A
  • NM_130799.2:c.1660C>T
  • NM_130800.2:c.1675C>T
Protein change:
Q519*
Links:
dbSNP: rs794728631
NCBI 1000 Genomes Browser:
rs794728631
Molecular consequence:
  • NM_000244.4:c.1675C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370251.2:c.1786C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370259.2:c.1660C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370260.2:c.1660C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370261.2:c.1660C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370262.2:c.1555C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370263.2:c.1555C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130799.3:c.1660C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130800.3:c.1675C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130801.3:c.1675C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130802.3:c.1675C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130803.3:c.1675C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130804.3:c.1675C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234770GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 29, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000234770.13

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

Description

The Q554X nonsense mutation in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type 1 (Langer et al., 2001). This mutation is predicted to delete the last 57 amino acids of the protein, causing loss of normal protein function through protein truncation. The variant is found in MEN1 panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024