NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) AND Cone-rod dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 7, 2020
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:: RCV001250383.3

Allele description [Variation Report for NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)]

NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)

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.995T>A (p.Val332Glu)

HGVS:

NC_000006.12:g.42698341A>T
NG_009176.2:g.29280T>A
NM_000322.5:c.995T>AMANE SELECT
NP_000313.2:p.Val332Glu
NC_000006.11:g.42666079A>T
NG_009176.1:g.29280T>A
NM_000322.4:c.995T>A

Protein change:

V332E

Links:

dbSNP: rs1582759492

NCBI 1000 Genomes Browser:

rs1582759492

Molecular consequence:

NM_000322.5:c.995T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cone-rod dystrophy
Synonyms:: Cone/cone-rod dystrophy; Cone-rod degeneration
Identifiers:: MONDO: MONDO:0015993; MedGen: C4085590; OMIM: PS120970; Human Phenotype Ontology: HP:0000548

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001424719	NEI Ophthalmic Genomics Laboratory, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 7, 2020)	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

SCV001424719

NEI Ophthalmic Genomics Laboratory, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 7, 2020)

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	yes	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 NEI Ophthalmic Genomics Laboratory, National Institutes of Health, SCV001424719.1

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

Description

The variant NM_000322.4:c.995T>A in the PRPH2 gene has been previously studied(PMID 30718709). We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (CM192683). It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM2, PP3] and classified NM_000322.4:c.995T>A in the PRPH2 gene as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

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