NM_020631.6(PLEKHG5):c.551G>A (p.Arg184His) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 11, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000236140.6

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.551G>A (p.Arg184His)]

NM_020631.6(PLEKHG5):c.551G>A (p.Arg184His)

Gene:

PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

Preferred name:

NM_020631.6(PLEKHG5):c.551G>A (p.Arg184His)

HGVS:

NC_000001.11:g.6474053C>T
NG_007978.1:g.50957G>A
NM_001042663.3:c.662G>A
NM_001042664.2:c.551G>A
NM_001042665.2:c.551G>A
NM_001265592.2:c.662G>A
NM_001265593.2:c.758G>A
NM_001265594.3:c.551G>A
NM_020631.6:c.551G>AMANE SELECT
NM_198681.4:c.551G>A
NP_001036128.2:p.Arg221His
NP_001036129.1:p.Arg184His
NP_001036129.1:p.Arg184His
NP_001036130.1:p.Arg184His
NP_001036130.1:p.Arg184His
NP_001252521.2:p.Arg221His
NP_001252522.1:p.Arg253His
NP_001252522.1:p.Arg253His
NP_001252523.1:p.Arg184His
NP_001252523.1:p.Arg184His
NP_065682.2:p.Arg184His
NP_065682.2:p.Arg184His
NP_941374.2:p.Arg261His
NP_941374.3:p.Arg184His
LRG_262t1:c.551G>A
LRG_262:g.50957G>A
LRG_262p1:p.Arg184His
NC_000001.10:g.6534113C>T
NM_001042664.1:c.551G>A
NM_001042665.1:c.551G>A
NM_001265593.1:c.758G>A
NM_001265594.2:c.551G>A
NM_020631.3:c.551G>A
NM_020631.4:c.551G>A
NM_198681.3:c.782G>A
p.Arg261His

Protein change:

R184H

Links:

dbSNP: rs750080171

NCBI 1000 Genomes Browser:

rs750080171

Molecular consequence:

NM_001042663.3:c.662G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042664.2:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042665.2:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265592.2:c.662G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265593.2:c.758G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265594.3:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020631.6:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198681.4:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase family protein [Arabidopsis thaliana]
gi|240256429|ref|NP_199891.4|

Protein
Priestia aryabhattai strain NWPZ-6 16S ribosomal RNA gene, partial sequence
Priestia aryabhattai strain NWPZ-6 16S ribosomal RNA gene, partial sequence
gi|1820466557|gb|MT184818.1|

Nucleotide
Curtobacterium sp. strain MAIDO-R16b-9 16S ribosomal RNA gene, partial sequence
Curtobacterium sp. strain MAIDO-R16b-9 16S ribosomal RNA gene, partial sequence
gi|1989819652|gb|MW631980.1|

Nucleotide
Psychrobacillus psychrodurans strain CSBB_294 16S ribosomal RNA gene, partial se...
Psychrobacillus psychrodurans strain CSBB_294 16S ribosomal RNA gene, partial sequence
gi|1908372877|gb|MW033762.1|

Nucleotide
Kocuria sp. strain Can_S17 16S ribosomal RNA gene, partial sequence
Kocuria sp. strain Can_S17 16S ribosomal RNA gene, partial sequence
gi|2269694642|gb|ON965346.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000293783	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 8, 2016)	germline	clinical testing	Citation Link,
SCV001713779	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 11, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293783

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 8, 2016)

germline

clinical testing

Citation Link,

SCV001713779

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 11, 2020)

germline

clinical testing

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

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
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000293783.10

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

Description

The R184H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It 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. The R184H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals; however, Histidine is observed at this position in evolution. In silico analysis predicts the R184H variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	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

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713779.1

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

Last Updated: Jun 10, 2023

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