NM_001394639.1(MROH2A):c.1952G>A (p.Arg651Gln) AND Abnormality of neuronal migration

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 31, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000201373.2

Allele description [Variation Report for NM_001394639.1(MROH2A):c.1952G>A (p.Arg651Gln)]

NM_001394639.1(MROH2A):c.1952G>A (p.Arg651Gln)

Gene:

MROH2A:maestro heat like repeat family member 2A [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_001394639.1(MROH2A):c.1952G>A (p.Arg651Gln)

HGVS:

NC_000002.12:g.233805011G>A
NG_051337.1:g.34350G>A
NM_001367507.1:c.1952G>A
NM_001394639.1:c.1952G>AMANE SELECT
NP_001354436.1:p.Arg651Gln
NP_001381568.1:p.Arg651Gln
NC_000002.11:g.234713657G>A

Protein change:

R651Q

Links:

dbSNP: rs863223390

NCBI 1000 Genomes Browser:

rs863223390

Molecular consequence:

NM_001367507.1:c.1952G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001394639.1:c.1952G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Abnormality of neuronal migration
Identifiers:: MedGen: C1837249; Human Phenotype Ontology: HP:0002269

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000239990	Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire	no assertion criteria provided	Benign (Oct 31, 2014)	paternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000239990

Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire

no assertion criteria provided

Benign
(Oct 31, 2014)

paternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	3	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire, SCV000239990.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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	paternal	yes	not provided	not provided	not provided		3	not provided	1	not provided

Last Updated: Jun 23, 2024

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