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NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) AND Patterned macular dystrophy 1

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Mar 17, 2023
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:
RCV000987700.8

Allele description [Variation Report for NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)]

NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)

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.133C>T (p.Leu45Phe)
HGVS:
  • NC_000006.12:g.42722202G>A
  • NG_009176.2:g.5419C>T
  • NM_000322.5:c.133C>TMANE SELECT
  • NP_000313.2:p.Leu45Phe
  • NC_000006.11:g.42689940G>A
  • NG_009176.1:g.5419C>T
  • NM_000322.4:c.133C>T
Protein change:
L45F
Links:
dbSNP: rs61755770
NCBI 1000 Genomes Browser:
rs61755770
Molecular consequence:
  • NM_000322.5:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Patterned macular dystrophy 1
Synonyms:
Macular dystrophy, butterfly-shaped pigmentary; Butterfly dystrophy of retinal pigment epithelium; Butterfly-shaped pigment dystrophy of the fovea
Identifiers:
MONDO: MONDO:0008210; MedGen: C4551999; Orphanet: 99001; OMIM: 169150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137119Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(Mar 17, 2023) 		unknownclinical testing

Citation Link,

SCV001323505Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 28, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001137119.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV001323505.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Sep 29, 2024