NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 6, 2022
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:: RCV002635404.2

Allele description [Variation Report for NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)]

NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)

Genes:

CYGB:cytoglobin [Gene - OMIM - HGNC]
PRCD:photoreceptor disc component [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)

Other names:

NC_000017.10:g.74536614_74536623dup; NP_001071088.1:p.(Ser38Ter)

HGVS:

NC_000017.11:g.76540532_76540541dup
NG_016702.1:g.17947_17956dup
NG_016702.2:g.17948_17957dup
NM_001077620.3:c.102_111dupMANE SELECT
NP_001071088.1:p.Ser38Ter
NC_000017.10:g.74536605_74536606insGGGGCAGCTA
NC_000017.10:g.74536614_74536623dup
NR_033357.2:n.276_285dup

Protein change:

S38*

Molecular consequence:

NR_033357.2:n.276_285dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001077620.3:c.102_111dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002969096	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 6, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32036094, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002969096

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 6, 2022)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies.

Rodríguez-Muñoz A, Aller E, Jaijo T, González-García E, Cabrera-Peset A, Gallego-Pinazo R, Udaondo P, Salom D, García-García G, Millán JM.

J Mol Diagn. 2020 Apr;22(4):532-543. doi: 10.1016/j.jmoldx.2020.01.003. Epub 2020 Feb 7.

PubMed [citation]

PMID:: 32036094

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, SCV002969096.1

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

Description

This sequence change creates a premature translational stop signal (p.Ser38*) in the PRCD gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 32036094; Invitae). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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

Last Updated: Sep 29, 2024

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