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NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 27, 2021
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:
RCV001530396.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs)]

NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs)
HGVS:
  • NC_000006.12:g.42698323_42698326dup
  • NG_009176.2:g.29296_29299dup
  • NM_000322.5:c.1011_1014dupMANE SELECT
  • NP_000313.2:p.Ala339fs
  • NC_000006.11:g.42666059_42666060insGTCT
  • NC_000006.11:g.42666061_42666064dup
  • NG_009176.1:g.29296_29299dup
  • NM_000322.4:c.1011_1014dup
Protein change:
A339fs
Links:
dbSNP: rs1799984208
NCBI 1000 Genomes Browser:
rs1799984208
Molecular consequence:
  • NM_000322.5:c.1011_1014dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001745209Leiden Open Variation Database
no assertion criteria provided
Likely pathogenic
(May 27, 2021) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge.

Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R.

Acta Ophthalmol. 2020 May;98(3):286-295. doi: 10.1111/aos.14218. Epub 2019 Aug 19.

PubMed [citation]
PMID:
31429209

Details of each submission

From Leiden Open Variation Database, SCV001745209.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Global Variome, with Curator vacancy.

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

Last Updated: Sep 29, 2024