NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) AND MEIS2-related disorder

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000509419.1

Allele description [Variation Report for NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)]

NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)

Gene:

MEIS2:Meis homeobox 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

15q14

Genomic location:

Preferred name:

NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)

HGVS:

NC_000015.10:g.36896665TCT[2]
NG_029108.1:g.209628GAA[2]
NM_001220482.2:c.992GAA[2]
NM_002399.4:c.953GAA[2]
NM_170674.5:c.992GAA[2]
NM_170675.5:c.992GAA[2]MANE SELECT
NM_170676.5:c.992GAA[2]
NM_170677.5:c.992GAA[2]
NM_172315.3:c.953GAA[2]
NM_172316.3:c.728GAA[2]
NP_001207411.1:p.Arg333del
NP_002390.1:p.Arg320del
NP_733774.1:p.Arg333del
NP_733775.1:p.Arg333del
NP_733776.1:p.Arg333del
NP_733777.1:p.Arg333del
NP_758526.1:p.Arg320del
NP_758527.1:p.Arg245del
NC_000015.9:g.37188866TCT[2]
NM_170674.2:c.998_1000del
NM_170674.4:c.998_1000del
NM_170674.4:c.998_1000delGAA
NM_170675.3:c.998_1000delGAA
NM_170675.5:c.998_1000delMANE SELECT
NM_170677.4:c.998_1000delGAA
NR_051953.2:n.1998GAA[2]

Protein change:

R245del

Links:

OMIM: 601740.0001; dbSNP: rs879255264

NCBI 1000 Genomes Browser:

rs879255264

Molecular consequence:

NM_001220482.2:c.992GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_002399.4:c.953GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_170674.5:c.992GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_170675.5:c.992GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_170676.5:c.992GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_170677.5:c.992GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_172315.3:c.953GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_172316.3:c.728GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_051953.2:n.1998GAA[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: MEIS2-related disorder
Identifiers:

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
SCV000606929	GenomeConnect, ClinGen	no classification provided	not provided	de novo	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000606929

GenomeConnect, ClinGen

no classification provided

not provided

de novo

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000606929.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine