NC_000019.9:g.(?_38375572)_(39738787_?)dup AND RYR1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 11, 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:: RCV003111411.4

Allele description [Variation Report for NC_000019.9:g.(?_38375572)_(39738787_?)dup]

NC_000019.9:g.(?_38375572)_(39738787_?)dup

Genes:

FBXO17:F-box protein 17 [Gene - OMIM - HGNC]
FBXO27:F-box protein 27 [Gene - OMIM - HGNC]
NCCRP1:NCCRP1, F-box associated domain containing [Gene - OMIM - HGNC]
NFKBIB:NFKB inhibitor beta [Gene - OMIM - HGNC]
RASGRP4:RAS guanyl releasing protein 4 [Gene - OMIM - HGNC]
RINL:Ras and Rab interactor like [Gene - OMIM - HGNC]
WDR87:WD repeat domain 87 [Gene - OMIM - HGNC]
YIF1B:Yip1 interacting factor homolog B, membrane trafficking protein [Gene - OMIM - HGNC]
ACP7:acid phosphatase 7, tartrate resistant (putative) [Gene - OMIM - HGNC]
ACTN4:actinin alpha 4 [Gene - OMIM - HGNC]
CAPN12:calpain 12 [Gene - OMIM - HGNC]
CATSPERG:cation channel sperm associated auxiliary subunit gamma [Gene - OMIM - HGNC]
C19orf33:chromosome 19 open reading frame 33 [Gene - OMIM - HGNC]
DPF1:double PHD fingers 1 [Gene - OMIM - HGNC]
ECH1:enoyl-CoA hydratase 1 [Gene - OMIM - HGNC]
EIF3K:eukaryotic translation initiation factor 3 subunit K [Gene - OMIM - HGNC]
FAM98C:family with sequence similarity 98 member C [Gene - HGNC]
LGALS4:galectin 4 [Gene - OMIM - HGNC]
LGALS7:galectin 7 [Gene - OMIM - HGNC]
LGALS7B:galectin 7B [Gene - OMIM - HGNC]
GGN:gametogenetin [Gene - OMIM - HGNC]
HNRNPL:heterogeneous nuclear ribonucleoprotein L [Gene - OMIM - HGNC]
IFNL3:interferon lambda 3 [Gene - OMIM - HGNC]
MRPS12:mitochondrial ribosomal protein S12 [Gene - OMIM - HGNC]
MAP4K1:mitogen-activated protein kinase kinase kinase kinase 1 [Gene - OMIM - HGNC]
PAK4:p21 (RAC1) activated kinase 4 [Gene - OMIM - HGNC]
KCNK6:potassium two pore domain channel subfamily K member 6 [Gene - OMIM - HGNC]
PSMD8:proteasome 26S subunit, non-ATPase 8 [Gene - OMIM - HGNC]
PPP1R14A:protein phosphatase 1 regulatory inhibitor subunit 14A [Gene - OMIM - HGNC]
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
SPINT2:serine peptidase inhibitor, Kunitz type 2 [Gene - OMIM - HGNC]
SARS2:seryl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
SIPA1L3:signal induced proliferation associated 1 like 3 [Gene - OMIM - HGNC]
SIRT2:sirtuin 2 [Gene - OMIM - HGNC]
SPRED3:sprouty related EVH1 domain containing 3 [Gene - OMIM - HGNC]
SYCN:syncollin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

19q13.13-13.2

Genomic location:

Chr19: 38375572 - 39738787 (on Assembly GRCh37)

Preferred name:

NC_000019.9:g.(?_38375572)_(39738787_?)dup

HGVS:

NC_000019.9:g.(?_38375572)_(39738787_?)dup

Condition(s)

Name:: RYR1-related disorder
Synonyms:: RYR1-Related Disorders; RYR1-related condition
Identifiers:: MedGen: CN239331

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003794226	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 11, 2022)	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

SCV003794226

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 11, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV003794226.2

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

Description

A copy number gain of the genomic region encompassing the full coding sequence of the RYR1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with RYR1-related conditions. 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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