NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys) AND Retinitis pigmentosa 7

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 30, 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:: RCV001352981.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)]

NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)

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.512T>G (p.Phe171Cys)

HGVS:

NC_000006.12:g.42721823A>C
NG_009176.2:g.5798T>G
NM_000322.5:c.512T>GMANE SELECT
NP_000313.2:p.Phe171Cys
NC_000006.11:g.42689561A>C
NM_000322.4:c.512T>G

Protein change:

F171C

Links:

dbSNP: rs1761906682

NCBI 1000 Genomes Browser:

rs1761906682

Molecular consequence:

NM_000322.5:c.512T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 7 (RP7)
Synonyms:: RP 7
Identifiers:: MONDO: MONDO:0011974; MedGen: C1842475; Orphanet: 791; OMIM: 608133

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001548069	Institute of Medical Molecular Genetics, University of Zurich	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 30, 2021)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 33546218

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001548069

Institute of Medical Molecular Genetics, University of Zurich

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 30, 2021)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	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

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J, Koller S, Bähr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W.

Int J Mol Sci. 2021 Feb 3;22(4). doi:pii: 1508. 10.3390/ijms22041508.

PubMed [citation]

PMID:: 33546218
PMCID:: PMC7913364

Details of each submission

From Institute of Medical Molecular Genetics, University of Zurich, SCV001548069.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Apr 23, 2022

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