NM_001370259.2(MEN1):c.823A>G (p.Arg275Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 2022
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:: RCV002406733.3

Allele description [Variation Report for NM_001370259.2(MEN1):c.823A>G (p.Arg275Gly)]

NM_001370259.2(MEN1):c.823A>G (p.Arg275Gly)

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.823A>G (p.Arg275Gly)

HGVS:

NC_000011.10:g.64807180T>C
NG_008929.1:g.9115A>G
NG_033040.1:g.1062A>G
NM_000244.4:c.838A>G
NM_001370251.2:c.823A>G
NM_001370259.2:c.823A>GMANE SELECT
NM_001370260.2:c.823A>G
NM_001370261.2:c.823A>G
NM_001370262.2:c.718A>G
NM_001370263.2:c.718A>G
NM_130799.3:c.823A>G
NM_130800.3:c.838A>G
NM_130801.3:c.838A>G
NM_130802.3:c.838A>G
NM_130803.3:c.838A>G
NM_130804.3:c.838A>G
NP_000235.3:p.Arg280Gly
NP_001357180.2:p.Arg275Gly
NP_001357188.2:p.Arg275Gly
NP_001357189.2:p.Arg275Gly
NP_001357190.2:p.Arg275Gly
NP_001357191.2:p.Arg240Gly
NP_001357192.2:p.Arg240Gly
NP_570711.1:p.Arg275Gly
NP_570711.2:p.Arg275Gly
NP_570712.2:p.Arg280Gly
NP_570713.2:p.Arg280Gly
NP_570714.2:p.Arg280Gly
NP_570715.2:p.Arg280Gly
NP_570716.2:p.Arg280Gly
LRG_509t2:c.823A>G
LRG_509:g.9115A>G
LRG_509p2:p.Arg275Gly
NC_000011.9:g.64574652T>C
NM_130799.2:c.823A>G

Protein change:

R240G

Links:

dbSNP: rs1592647235

NCBI 1000 Genomes Browser:

rs1592647235

Molecular consequence:

NM_000244.4:c.838A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370251.2:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370259.2:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370260.2:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370261.2:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370262.2:c.718A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370263.2:c.718A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130799.3:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130800.3:c.838A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130801.3:c.838A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130802.3:c.838A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130803.3:c.838A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130804.3:c.838A>G - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002676144	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 30, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002676144

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 30, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002676144.3

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

Description

The p.R275G variant (also known as c.823A>G), located in coding exon 4 of the MEN1 gene, results from an A to G substitution at nucleotide position 823. The arginine at codon 275 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024

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