NM_001370259.2(MEN1):c.1710_1715del (p.Ile570_Ser572delinsMet) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 3, 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:: RCV000182444.2

Allele description [Variation Report for NM_001370259.2(MEN1):c.1710_1715del (p.Ile570_Ser572delinsMet)]

NM_001370259.2(MEN1):c.1710_1715del (p.Ile570_Ser572delinsMet)

Gene:

MEN1:menin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_001370259.2(MEN1):c.1710_1715del (p.Ile570_Ser572delinsMet)

HGVS:

NC_000011.10:g.64804452_64804457del
NG_008929.1:g.11838_11843del
NG_033040.1:g.3785_3790del
NM_000244.4:c.1725_1730del
NM_001370251.2:c.1836_1841del
NM_001370259.2:c.1710_1715delMANE SELECT
NM_001370260.2:c.1710_1715del
NM_001370261.2:c.1710_1715del
NM_001370262.2:c.1605_1610del
NM_001370263.2:c.1605_1610del
NM_130799.3:c.1710_1715del
NM_130800.3:c.1725_1730del
NM_130801.3:c.1725_1730del
NM_130802.3:c.1725_1730del
NM_130803.3:c.1725_1730del
NM_130804.3:c.1725_1730del
NP_000235.3:p.Ile575_Ser577delinsMet
NP_001357180.2:p.Ile612_Ser614delinsMet
NP_001357188.2:p.Ile570_Ser572delinsMet
NP_001357189.2:p.Ile570_Ser572delinsMet
NP_001357190.2:p.Ile570_Ser572delinsMet
NP_001357191.2:p.Ile535_Ser537delinsMet
NP_001357192.2:p.Ile535_Ser537delinsMet
NP_570711.2:p.Ile570_Ser572delinsMet
NP_570712.2:p.Ile575_Ser577delinsMet
NP_570713.2:p.Ile575_Ser577delinsMet
NP_570714.2:p.Ile575_Ser577delinsMet
NP_570715.2:p.Ile575_Ser577delinsMet
NP_570716.2:p.Ile575_Ser577delinsMet
LRG_509:g.11838_11843del
NC_000011.9:g.64571924_64571929del
NM_130799.2:c.1710_1715delCAACTC
p.I570_S572delinsM

Links:

dbSNP: rs794728646

NCBI 1000 Genomes Browser:

rs794728646

Molecular consequence:

NM_000244.4:c.1725_1730del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001370251.2:c.1836_1841del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001370259.2:c.1710_1715del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001370260.2:c.1710_1715del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001370261.2:c.1710_1715del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001370262.2:c.1605_1610del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001370263.2:c.1605_1610del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_130799.3:c.1710_1715del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_130800.3:c.1725_1730del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_130801.3:c.1725_1730del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_130802.3:c.1725_1730del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_130803.3:c.1725_1730del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_130804.3:c.1725_1730del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

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
SCV000234789	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Oct 3, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000234789

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Oct 3, 2014)

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, SCV000234789.2

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

Description

The c.1710_1715delCAACTC variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The normal sequence with the bases that are deleted in braces is: AGAT{CAACTC}GAGC. The c.1710_1715delCAACTC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant results in an in-frame deletion of three amino acid residues (Isoleucine 570, Asparagine 571, Serine 572) and an insertion of a Methionine residue, denoted p.Ile570_Ser572delinsMet. This variant occurs at a position that is highly conserved in mammalian species. This variant is not predicted to result in protein truncation or nonsense-mediated mRNA decay. Therefore, based on the currently available information, it is unclear whether c.1710_1715delCAACTC is a disease-causing mutation or a rare benign variant. The variant is found in MEN1 panel(s).

#	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: Nov 5, 2022

ClinVar

Relating variation to medicine