NM_001370259.2(MEN1):c.655A>G (p.Ser219Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 14, 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:: RCV003222422.1

Allele description [Variation Report for NM_001370259.2(MEN1):c.655A>G (p.Ser219Gly)]

NM_001370259.2(MEN1):c.655A>G (p.Ser219Gly)

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.655A>G (p.Ser219Gly)

HGVS:

NC_000011.10:g.64807680T>C
NG_008929.1:g.8615A>G
NG_033040.2:g.534A>G
NM_000244.4:c.670A>G
NM_001370251.2:c.655A>G
NM_001370259.2:c.655A>GMANE SELECT
NM_001370260.2:c.655A>G
NM_001370261.2:c.655A>G
NM_001370262.2:c.550A>G
NM_001370263.2:c.550A>G
NM_001407142.1:c.655A>G
NM_001407143.1:c.655A>G
NM_001407144.1:c.655A>G
NM_001407145.1:c.670A>G
NM_001407146.1:c.655A>G
NM_001407147.1:c.655A>G
NM_001407148.1:c.550A>G
NM_001407149.1:c.550A>G
NM_001407150.1:c.670A>G
NM_001407151.1:c.550A>G
NM_001407152.1:c.655A>G
NM_130799.3:c.655A>G
NM_130800.3:c.670A>G
NM_130801.3:c.670A>G
NM_130802.3:c.670A>G
NM_130803.3:c.670A>G
NM_130804.3:c.670A>G
NP_000235.2:p.Ser224Gly
NP_000235.3:p.Ser224Gly
NP_001357180.2:p.Ser219Gly
NP_001357188.2:p.Ser219Gly
NP_001357189.2:p.Ser219Gly
NP_001357190.2:p.Ser219Gly
NP_001357191.2:p.Ser184Gly
NP_001357192.2:p.Ser184Gly
NP_001394071.1:p.Ser219Gly
NP_001394072.1:p.Ser219Gly
NP_001394073.1:p.Ser219Gly
NP_001394074.1:p.Ser224Gly
NP_001394075.1:p.Ser219Gly
NP_001394076.1:p.Ser219Gly
NP_001394077.1:p.Ser184Gly
NP_001394078.1:p.Ser184Gly
NP_001394079.1:p.Ser224Gly
NP_001394080.1:p.Ser184Gly
NP_001394081.1:p.Ser219Gly
NP_570711.1:p.Ser219Gly
NP_570711.2:p.Ser219Gly
NP_570712.2:p.Ser224Gly
NP_570713.2:p.Ser224Gly
NP_570714.2:p.Ser224Gly
NP_570715.2:p.Ser224Gly
NP_570716.2:p.Ser224Gly
LRG_509t1:c.670A>G
LRG_509t2:c.655A>G
LRG_509:g.8615A>G
LRG_509p1:p.Ser224Gly
LRG_509p2:p.Ser219Gly
NC_000011.9:g.64575152T>C
NG_033040.1:g.562A>G
NM_000244.3:c.670A>G
NM_130799.2:c.655A>G
NR_176284.1:n.704A>G
NR_176285.1:n.716A>G
NR_176286.1:n.719A>G
NR_176287.1:n.977A>G

Protein change:

S184G

Molecular consequence:

NM_000244.4:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370251.2:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370259.2:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370260.2:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370261.2:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370262.2:c.550A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001370263.2:c.550A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407142.1:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407143.1:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407144.1:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407145.1:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407146.1:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407147.1:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407148.1:c.550A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407149.1:c.550A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407150.1:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407151.1:c.550A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407152.1:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130799.3:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130800.3:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130801.3:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130802.3:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130803.3:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_130804.3:c.670A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Gm25338 predicted gene, 25338 [Mus musculus]
Gm25338 predicted gene, 25338 [Mus musculus]
Gene ID:115489639

Gene
Gm25338 AND (alive[prop]) (1)
Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003918334	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 14, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003918334

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 14, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003918334.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 9989505, 12874027)

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine