NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 4, 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:: RCV001265836.2

Allele description [Variation Report for NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)]

NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)

Gene:

RHOBTB2:Rho related BTB domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

Preferred name:

NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)

HGVS:

NC_000008.11:g.23007627G>A
NG_047133.1:g.25370G>A
NM_001160036.2:c.1448G>A
NM_001160037.2:c.1403G>A
NM_001374791.1:c.1382G>A
NM_015178.3:c.1382G>AMANE SELECT
NP_001153508.1:p.Arg483His
NP_001153509.1:p.Arg468His
NP_001361720.1:p.Arg461His
NP_055993.2:p.Arg461His
NC_000008.10:g.22865140G>A
NC_000008.10:g.22865140G>A
NM_001160036.1:c.1448G>A
NM_015178.2:c.1382G>A

Protein change:

R461H; ARG483HIS

Links:

OMIM: 607352.0001; dbSNP: rs1554504663

NCBI 1000 Genomes Browser:

rs1554504663

Molecular consequence:

NM_001160036.2:c.1448G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001160037.2:c.1403G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374791.1:c.1382G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015178.3:c.1382G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001444008	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Jan 4, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 29276004, 18298893 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444008

Ambry Genetics

criteria provided, single submitter

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

Likely pathogenic
(Jan 4, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian/Irish/English/Italian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, et al.

Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21.

PubMed [citation]

PMID:: 29276004
PMCID:: PMC5777381

Rho GTPases of the RhoBTB subfamily and tumorigenesis.

Berthold J, Schenkova K, Rivero F.

Acta Pharmacol Sin. 2008 Mar;29(3):285-95. doi: 10.1111/j.1745-7254.2008.00773.x. Review.

PubMed [citation]

PMID:: 18298893

Details of each submission

From Ambry Genetics, SCV001444008.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian/Irish/English/Italian	1	not provided	not provided	clinical testing	PubMed (2)

#	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: May 12, 2024

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