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NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs) AND PRPH2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 18, 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:
RCV001044856.8

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)

Name:
PRPH2-related disorder
Synonyms:
PRPH2-Related Disorders; PRPH2-related condition
Identifiers:
MedGen: CN239395

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001208676Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Feb 18, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001208676.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in individual(s) with pattern dystrophy (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the PRPH2 gene (p.Ala339Argfs*54). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acids of the PRPH2 protein and extend the protein by an additional 45 amino acids.

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

Last Updated: Sep 29, 2024