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: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004026019Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 22, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

PM2_SUP

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024