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NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) AND Retinitis pigmentosa

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001003146.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)]

NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)
HGVS:
  • NC_000006.12:g.42721817T>G
  • NG_009176.2:g.5804A>C
  • NM_000322.5:c.518A>CMANE SELECT
  • NP_000313.2:p.Asp173Ala
  • NC_000006.11:g.42689555T>G
  • NG_009176.1:g.5804A>C
  • NM_000322.4:c.518A>C
Protein change:
D173A
Links:
dbSNP: rs61755794
NCBI 1000 Genomes Browser:
rs61755794
Molecular consequence:
  • NM_000322.5:c.518A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161215Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Likely pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161215.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024