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NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 28, 2019
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:
RCV004020194.1

Allele description [Variation Report for NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)]

NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)

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.1324C>T (p.Gln442Ter)
Other names:
p.Q442*:CAG>TAG
HGVS:
  • NC_000011.10:g.64805060G>A
  • NG_008929.1:g.11235C>T
  • NG_033040.1:g.3182C>T
  • NM_000244.4:c.1339C>T
  • NM_001370251.2:c.1450C>T
  • NM_001370259.2:c.1324C>TMANE SELECT
  • NM_001370260.2:c.1324C>T
  • NM_001370261.2:c.1324C>T
  • NM_001370262.2:c.1219C>T
  • NM_001370263.2:c.1219C>T
  • NM_130799.3:c.1324C>T
  • NM_130800.3:c.1339C>T
  • NM_130801.3:c.1339C>T
  • NM_130802.3:c.1339C>T
  • NM_130803.3:c.1339C>T
  • NM_130804.3:c.1339C>T
  • NP_000235.3:p.Gln447Ter
  • NP_001357180.2:p.Gln484Ter
  • NP_001357188.2:p.Gln442Ter
  • NP_001357189.2:p.Gln442Ter
  • NP_001357190.2:p.Gln442Ter
  • NP_001357191.2:p.Gln407Ter
  • NP_001357192.2:p.Gln407Ter
  • NP_570711.1:p.Gln442Ter
  • NP_570711.2:p.Gln442Ter
  • NP_570712.1:p.Gln447Ter
  • NP_570712.2:p.Gln447Ter
  • NP_570713.2:p.Gln447Ter
  • NP_570714.2:p.Gln447Ter
  • NP_570715.2:p.Gln447Ter
  • NP_570716.2:p.Gln447Ter
  • LRG_509t2:c.1324C>T
  • LRG_509:g.11235C>T
  • LRG_509p2:p.Gln442Ter
  • NC_000011.9:g.64572532G>A
  • NM_130799.2:c.1324C>T
  • NM_130800.2:c.1339C>T
Protein change:
Q407*
Links:
dbSNP: rs794728654
NCBI 1000 Genomes Browser:
rs794728654
Molecular consequence:
  • NM_000244.4:c.1339C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370251.2:c.1450C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370259.2:c.1324C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370260.2:c.1324C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370261.2:c.1324C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370262.2:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370263.2:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130799.3:c.1324C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130800.3:c.1339C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130801.3:c.1339C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130802.3:c.1339C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130803.3:c.1339C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130804.3:c.1339C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005030327Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 28, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype.

Pieterman CR, van Hulsteijn LT, den Heijer M, van der Luijt RB, Bonenkamp JJ, Hermus AR, Borel Rinkes IH, Vriens MR, Valk GD; DutchMEN1 Study Group..

Ann Surg. 2012 Jun;255(6):1171-8. doi: 10.1097/SLA.0b013e31824c5145.

PubMed [citation]
PMID:
22470073

Germline mutations of the MEN1 gene in Japanese kindred with multiple endocrine neoplasia type 1.

Shimizu S, Tsukada T, Futami H, Ui K, Kameya T, Kawanaka M, Uchiyama S, Aoki A, Yasuda H, Kawano S, Ito Y, Kanbe M, Obara T, Yamaguchi K.

Jpn J Cancer Res. 1997 Nov;88(11):1029-32.

PubMed [citation]
PMID:
9439676
PMCID:
PMC5921317

Details of each submission

From Ambry Genetics, SCV005030327.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.Q442* pathogenic mutation (also known as c.1324C>T), located in coding exon 8 of the MEN1 gene, results from a C to T substitution at nucleotide position 1324. This changes the amino acid from a glutamine to a stop codon within coding exon 8. This mutation has been reported in Japanese and Dutch MEN1 patients (Shimizu S et al. Jpn. J. Cancer Res. 1997 Nov;88:1029-32; Pieterman CR et al. Ann. Surg. 2012 Jun;255:1171-8). Of note, this alteration is also designated as c.1339C>T (p.Gln447X) in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024