NM_001370259.2(MEN1):c.841G>A (p.Gly281Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 10, 2014
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:: RCV000490992.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.841G>A (p.Gly281Arg)]

NM_001370259.2(MEN1):c.841G>A (p.Gly281Arg)

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.841G>A (p.Gly281Arg)

HGVS:

NC_000011.10:g.64807082C>T
NG_008929.1:g.9213G>A
NG_033040.1:g.1160G>A
NM_000244.4:c.856G>A
NM_001370251.2:c.841G>A
NM_001370259.2:c.841G>AMANE SELECT
NM_001370260.2:c.841G>A
NM_001370261.2:c.841G>A
NM_001370262.2:c.736G>A
NM_001370263.2:c.736G>A
NM_130799.3:c.841G>A
NM_130800.3:c.856G>A
NM_130801.3:c.856G>A
NM_130802.3:c.856G>A
NM_130803.3:c.856G>A
NM_130804.3:c.856G>A
NP_000235.3:p.Gly286Arg
NP_001357180.2:p.Gly281Arg
NP_001357188.2:p.Gly281Arg
NP_001357189.2:p.Gly281Arg
NP_001357190.2:p.Gly281Arg
NP_001357191.2:p.Gly246Arg
NP_001357192.2:p.Gly246Arg
NP_570711.1:p.Gly281Arg
NP_570711.2:p.Gly281Arg
NP_570712.2:p.Gly286Arg
NP_570713.2:p.Gly286Arg
NP_570714.2:p.Gly286Arg
NP_570715.2:p.Gly286Arg
NP_570716.2:p.Gly286Arg
LRG_509t2:c.841G>A
LRG_509:g.9213G>A
LRG_509p2:p.Gly281Arg
NC_000011.9:g.64574554C>T
NM_130799.2:c.841G>A

Protein change:

G246R

Links:

dbSNP: rs1114167493

NCBI 1000 Genomes Browser:

rs1114167493

Molecular consequence:

NM_000244.4:c.856G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370251.2:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370259.2:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370260.2:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370261.2:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370262.2:c.736G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370263.2:c.736G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130799.3:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130800.3:c.856G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130801.3:c.856G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130802.3:c.856G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130803.3:c.856G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_130804.3:c.856G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Rabggtb Rab geranylgeranyltransferase subunit beta [Rattus norvegicus]
Rabggtb Rab geranylgeranyltransferase subunit beta [Rattus norvegicus]
Gene ID:25533

Gene
25533[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000579675	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Likely pathogenic (Feb 10, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579675

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Likely pathogenic
(Feb 10, 2014)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000579675.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

The p.G281R variant (also known as c.841G>A), located in coding exon 5 of the MEN1 gene, results from a G to A substitution at nucleotide position 841. The glycine at codon 281 is replaced by arginine, an amino acid with dissimilar properties.This alteration has been reported in one individual with a clinical diagnosis of MEN1 (Crepin M et al. Electrophoresis. 2003 Jan;24(1-2):26-33).A similar alteration, c.841G>C, has been reported in one family with hyperparathyroidism, a pituitary adenoma, and CNS tumors (Wautot V et al. Hum Mutat. 2002 Jul;20(1):35-47).This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. To date, this alteration has been detected with an allele frequency of approximately 0.10% (greater than 1000 alleles tested) in our clinical cohort (includes this individual). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively.Based on the majority of available evidence to date, this variant is likely to be pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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