NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del) AND Multiple endocrine neoplasia, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 29, 2017
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:: RCV000662920.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del)]

NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del)

Gene:

MEN1:menin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del)

HGVS:

NC_000011.10:g.64805086_64805094del
NG_008929.1:g.11205_11213del
NG_033040.1:g.3152_3160del
NM_000244.4:c.1309_1317del
NM_001370251.2:c.1420_1428del
NM_001370259.2:c.1294_1302delMANE SELECT
NM_001370260.2:c.1294_1302del
NM_001370261.2:c.1294_1302del
NM_001370262.2:c.1189_1197del
NM_001370263.2:c.1189_1197del
NM_130799.3:c.1294_1302del
NM_130800.3:c.1309_1317del
NM_130801.3:c.1309_1317del
NM_130802.3:c.1309_1317del
NM_130803.3:c.1309_1317del
NM_130804.3:c.1309_1317del
NP_000235.3:p.Leu437_Val439del
NP_001357180.2:p.Leu474_Val476del
NP_001357188.2:p.Leu432_Val434del
NP_001357189.2:p.Leu432_Val434del
NP_001357190.2:p.Leu432_Val434del
NP_001357191.2:p.Leu397_Val399del
NP_001357192.2:p.Leu397_Val399del
NP_570711.2:p.Leu432_Val434del
NP_570712.2:p.Leu437_Val439del
NP_570713.2:p.Leu437_Val439del
NP_570714.2:p.Leu437_Val439del
NP_570715.2:p.Leu437_Val439del
NP_570716.2:p.Leu437_Val439del
LRG_509:g.11205_11213del
NC_000011.9:g.64572558_64572566del
NM_130799.2:c.1294_1302del9

Links:

dbSNP: rs1555164218

NCBI 1000 Genomes Browser:

rs1555164218

Molecular consequence:

NM_000244.4:c.1309_1317del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370251.2:c.1420_1428del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370259.2:c.1294_1302del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370260.2:c.1294_1302del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370261.2:c.1294_1302del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370262.2:c.1189_1197del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370263.2:c.1189_1197del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130799.3:c.1294_1302del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130800.3:c.1309_1317del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130801.3:c.1309_1317del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130802.3:c.1309_1317del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130803.3:c.1309_1317del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_130804.3:c.1309_1317del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Multiple endocrine neoplasia, type 1 (MEN1)
Synonyms:: MEA I; MEN I; Endocrine adenomatosis multiple; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007540; MeSH: D018761; MedGen: C0025267; Orphanet: 652; OMIM: 131100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000785866	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Dec 29, 2017)	unknown	clinical testing	Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000785866

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Dec 29, 2017)

unknown

clinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000785866.2

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

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

Last Updated: Nov 5, 2022

ClinVar

Relating variation to medicine