NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 22, 2022
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:: RCV003321573.2

Allele description [Variation Report for NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)]

NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)

Gene:

REEP1:receptor accessory protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p11.2

Genomic location:

Preferred name:

NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)

Other names:

*175W; *202W; *209W

HGVS:

NC_000002.12:g.86217101T>C
NG_013037.1:g.125983A>G
NM_001164730.2:c.626A>G
NM_001164731.2:c.524A>G
NM_001164732.2:c.370A>G
NM_001371279.1:c.793A>GMANE SELECT
NM_001371280.1:c.427A>G
NM_022912.3:c.605A>G
NP_001158202.1:p.Ter209Trp
NP_001158203.1:p.Ter175Trp
NP_001158204.1:p.Arg124Gly
NP_001358208.1:p.Arg265Gly
NP_001358209.1:p.Arg143Gly
NP_075063.1:p.Ter202Trp
NP_075063.1:p.Ter202Trp
LRG_713t2:c.605A>G
LRG_713:g.125983A>G
LRG_713p2:p.Ter202Trp
NC_000002.11:g.86444224T>C
NM_001164731.1:c.524A>G
NM_022912.2:c.605A>G

Protein change:

R124G

Links:

dbSNP: rs587781248

NCBI 1000 Genomes Browser:

rs587781248

Molecular consequence:

NM_001164732.2:c.370A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371279.1:c.793A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371280.1:c.427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001164730.2:c.626A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_001164731.2:c.524A>G - stop lost - [Sequence Ontology: SO:0001578]
NM_022912.3:c.605A>G - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004026019	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 22, 2022)	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

SCV004026019

Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 22, 2022)

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	not provided	not provided	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 Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV004026019.1

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

Description

PM2_SUP

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

Last Updated: Aug 26, 2023

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