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NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 23, 2018
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:
RCV002393488.1

Allele description

NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter)

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.1413G>A (p.Trp471Ter)
HGVS:
  • NC_000011.10:g.64804754C>T
  • NG_008929.1:g.11541G>A
  • NG_033040.1:g.3488G>A
  • NM_000244.4:c.1428G>A
  • NM_001370251.2:c.1539G>A
  • NM_001370259.2:c.1413G>AMANE SELECT
  • NM_001370260.2:c.1413G>A
  • NM_001370261.2:c.1413G>A
  • NM_001370262.2:c.1308G>A
  • NM_001370263.2:c.1308G>A
  • NM_130799.3:c.1413G>A
  • NM_130800.3:c.1428G>A
  • NM_130801.3:c.1428G>A
  • NM_130802.3:c.1428G>A
  • NM_130803.3:c.1428G>A
  • NM_130804.3:c.1428G>A
  • NP_000235.3:p.Trp476Ter
  • NP_001357180.2:p.Trp513Ter
  • NP_001357188.2:p.Trp471Ter
  • NP_001357189.2:p.Trp471Ter
  • NP_001357190.2:p.Trp471Ter
  • NP_001357191.2:p.Trp436Ter
  • NP_001357192.2:p.Trp436Ter
  • NP_570711.1:p.Trp471Ter
  • NP_570711.2:p.Trp471Ter
  • NP_570712.2:p.Trp476Ter
  • NP_570713.2:p.Trp476Ter
  • NP_570714.2:p.Trp476Ter
  • NP_570715.2:p.Trp476Ter
  • NP_570716.2:p.Trp476Ter
  • LRG_509t2:c.1413G>A
  • LRG_509:g.11541G>A
  • LRG_509p2:p.Trp471Ter
  • NC_000011.9:g.64572226C>T
  • NM_130799.2:c.1413G>A
Protein change:
W436*
Links:
dbSNP: rs1941556077
NCBI 1000 Genomes Browser:
rs1941556077
Molecular consequence:
  • NM_000244.4:c.1428G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370251.2:c.1539G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370259.2:c.1413G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370260.2:c.1413G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370261.2:c.1413G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370262.2:c.1308G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370263.2:c.1308G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130799.3:c.1413G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130800.3:c.1428G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130801.3:c.1428G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130802.3:c.1428G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130803.3:c.1428G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130804.3:c.1428G>A - nonsense - [Sequence Ontology: SO:0001587]
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; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002699699Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Jul 23, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.

Mutch MG, Dilley WG, Sanjurjo F, DeBenedetti MK, Doherty GM, Wells SA Jr, Goodfellow PJ, Lairmore TC.

Hum Mutat. 1999;13(3):175-85.

PubMed [citation]
PMID:
10090472

Multiple endocrine neoplasia type 1 (MEN1): clinical heterogeneity in a large family with a nonsense mutation in the MEN1 gene (Trp471Stop).

Valdés N, Pérez de Nanclares G, Alvarez V, Castaño L, Díaz-Cadórniga F, Aller J, Coto E.

Clin Endocrinol (Oxf). 1999 Mar;50(3):309-13.

PubMed [citation]
PMID:
10435055

Details of each submission

From Ambry Genetics, SCV002699699.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.W471* pathogenic mutation (also known as c.1413G>A), located in coding exon 9 of the MEN1 gene, results from a G to A substitution at nucleotide position 1413. This changes the amino acid from a tryptophan to a stop codon within coding exon 9. This mutation was observed in 11 affected members from a large MEN1 family of 36 individuals, as well as in another unrelated individual (Valdés N et al Clin. Endocrinol. 1999 Mar;50(3):309-13; Mutch MG et al Hum. Mutat. 1999;13(3):175-85). In addition to the information 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024