NM_001370259.2(MEN1):c.1382A>C (p.Glu461Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 23, 2024
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:: RCV002381188.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.1382A>C (p.Glu461Ala)]

NM_001370259.2(MEN1):c.1382A>C (p.Glu461Ala)

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.1382A>C (p.Glu461Ala)

HGVS:

NC_000011.10:g.64804785T>G
NG_008929.1:g.11510A>C
NG_033040.2:g.3429A>C
NM_000244.4:c.1397A>C
NM_001370251.2:c.1508A>C
NM_001370259.2:c.1382A>CMANE SELECT
NM_001370260.2:c.1382A>C
NM_001370261.2:c.1382A>C
NM_001370262.2:c.1277A>C
NM_001370263.2:c.1277A>C
NM_001407142.1:c.1508A>C
NM_001407143.1:c.1508A>C
NM_001407144.1:c.1508A>C
NM_001407145.1:c.1397A>C
NM_001407146.1:c.1382A>C
NM_001407147.1:c.1382A>C
NM_001407148.1:c.1277A>C
NM_001407149.1:c.1277A>C
NM_001407150.1:c.1523A>C
NM_001407151.1:c.1403A>C
NM_001407152.1:c.1217A>C
NM_130799.3:c.1382A>C
NM_130800.3:c.1397A>C
NM_130801.3:c.1397A>C
NM_130802.3:c.1397A>C
NM_130803.3:c.1397A>C
NM_130804.3:c.1397A>C
NP_000235.2:p.Glu466Ala
NP_000235.3:p.Glu466Ala
NP_001357180.2:p.Glu503Ala
NP_001357188.2:p.Glu461Ala
NP_001357189.2:p.Glu461Ala
NP_001357190.2:p.Glu461Ala
NP_001357191.2:p.Glu426Ala
NP_001357192.2:p.Glu426Ala
NP_001394071.1:p.Glu503Ala
NP_001394072.1:p.Glu503Ala
NP_001394073.1:p.Glu503Ala
NP_001394074.1:p.Glu466Ala
NP_001394075.1:p.Glu461Ala
NP_001394076.1:p.Glu461Ala
NP_001394077.1:p.Glu426Ala
NP_001394078.1:p.Glu426Ala
NP_001394079.1:p.Glu508Ala
NP_001394080.1:p.Glu468Ala
NP_001394081.1:p.Glu406Ala
NP_570711.1:p.Glu461Ala
NP_570711.2:p.Glu461Ala
NP_570712.2:p.Glu466Ala
NP_570713.2:p.Glu466Ala
NP_570714.2:p.Glu466Ala
NP_570715.2:p.Glu466Ala
NP_570716.2:p.Glu466Ala
LRG_509t1:c.1397A>C
LRG_509t2:c.1382A>C
LRG_509:g.11510A>C
LRG_509p1:p.Glu466Ala
LRG_509p2:p.Glu461Ala
NC_000011.9:g.64572257T>G
NG_033040.1:g.3457A>C
NM_000244.3:c.1397A>C
NM_130799.2:c.1382A>C
NR_176284.1:n.1580A>C
NR_176285.1:n.1592A>C
NR_176286.1:n.1595A>C
NR_176287.1:n.1853A>C

Protein change:

E406A

Molecular consequence:

NM_000244.4:c.1397A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370251.2:c.1508A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370259.2:c.1382A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370260.2:c.1382A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370261.2:c.1382A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370262.2:c.1277A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001370263.2:c.1277A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407142.1:c.1508A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407143.1:c.1508A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407144.1:c.1508A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407145.1:c.1397A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407146.1:c.1382A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407147.1:c.1382A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407148.1:c.1277A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407149.1:c.1277A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407150.1:c.1523A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407151.1:c.1403A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407152.1:c.1217A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130799.3:c.1382A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130800.3:c.1397A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130801.3:c.1397A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130802.3:c.1397A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130803.3:c.1397A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_130804.3:c.1397A>C - 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

Recent activity

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Homo sapiens deltex E3 ubiquitin ligase 2 (DTX2), transcript variant 1, mRNA
Homo sapiens deltex E3 ubiquitin ligase 2 (DTX2), transcript variant 1, mRNA
gi|1934862632|ref|NM_020892.4|

Nucleotide
Alburnus belvica voucher MNCN 1333G cytochrome oxidase subunit I (COI) gene, par...
Alburnus belvica voucher MNCN 1333G cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial
gi|307090472|gb|HM560244.1|

Nucleotide
uncharacterized protein C6orf136 homolog isoform X2 [Mus musculus]
uncharacterized protein C6orf136 homolog isoform X2 [Mus musculus]
gi|569001531|ref|XP_006524940.1|

Protein
PGTG_19523 [Puccinia graminis f. sp. tritici CRL 75-36-700-3]
PGTG_19523 [Puccinia graminis f. sp. tritici CRL 75-36-700-3]
Gene ID:10534777

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002696752	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002696752

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 23, 2024)

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, SCV002696752.2

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

Description

The p.E461A variant (also known as c.1382A>C), located in coding exon 9 of the MEN1 gene, results from an A to C substitution at nucleotide position 1382. The glutamic acid at codon 461 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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: May 7, 2024

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