NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 9, 2018
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:: RCV001267141.2

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]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001445322	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Apr 9, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445322

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Apr 9, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian/Norwegian/German/Swedish	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.

Louw JJ, Corveleyn A, Jia Y, Hens G, Gewillig M, Devriendt K.

Am J Med Genet A. 2015 May;167A(5):1142-6. doi: 10.1002/ajmg.a.36989. Epub 2015 Feb 25.

PubMed [citation]

PMID:: 25712757

Details of each submission

From Ambry Genetics, SCV001445322.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/Norwegian/German/Swedish	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jun 23, 2024

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