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NM_006269.2(RP1):c.2615G>A (p.Arg872His) AND Retinitis pigmentosa 1

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 7, 2021
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:
RCV001795275.10

Allele description [Variation Report for NM_006269.2(RP1):c.2615G>A (p.Arg872His)]

NM_006269.2(RP1):c.2615G>A (p.Arg872His)

Gene:
RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q12.1
Genomic location:
Preferred name:
NM_006269.2(RP1):c.2615G>A (p.Arg872His)
HGVS:
  • NC_000008.11:g.54626497G>A
  • NG_009840.2:g.15431G>A
  • NM_006269.2:c.2615G>AMANE SELECT
  • NP_006260.1:p.Arg872His
  • NP_006260.1:p.Arg872His
  • NC_000008.10:g.55539057G>A
  • NG_009840.1:g.15431G>A
  • NM_006269.1:c.2615G>A
  • P56715:p.Arg872His
Protein change:
R872H
Links:
UniProtKB: P56715#VAR_007810; dbSNP: rs444772
NCBI 1000 Genomes Browser:
rs444772
Molecular consequence:
  • NM_006269.2:c.2615G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa 1 (RP1)
Identifiers:
MONDO: MONDO:0008377; MedGen: C0220701; Orphanet: 791; OMIM: 180100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002033681Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Nov 7, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002033681.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024