NM_000540.3(RYR1):c.7835+3_7835+19dup AND RYR1-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 3, 2023
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:: RCV003820313.2

Allele description [Variation Report for NM_000540.3(RYR1):c.7835+3_7835+19dup]

NM_000540.3(RYR1):c.7835+3_7835+19dup

Gene:

RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.7835+3_7835+19dup

HGVS:

NC_000019.10:g.38502730_38502746dup
NG_008866.1:g.74031_74047dup
NM_000540.3:c.7835+3_7835+19dupMANE SELECT
NM_001042723.2:c.7835+3_7835+19dup
LRG_766:g.74031_74047dup
NC_000019.9:g.38993369_38993370insGGAGCGGGGCAGGCTTC
NC_000019.9:g.38993370_38993386dup

Molecular consequence:

NM_000540.3:c.7835+3_7835+19dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001042723.2:c.7835+3_7835+19dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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MEKK5 (0)
Protein Family Models
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Garymunida simillima voucher Fo366 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|1573066481|gb|MK049305.1|

Nucleotide
Agononida simillima isolate Fo365 large subunit ribosomal RNA gene, partial sequ...
Agononida simillima isolate Fo365 large subunit ribosomal RNA gene, partial sequence; mitochondrial
gi|2284145443|gb|OP195945.1|

Nucleotide
Rhodobacter sphaeroides strain RSF6 16S ribosomal RNA gene, partial sequence
Rhodobacter sphaeroides strain RSF6 16S ribosomal RNA gene, partial sequence
gi|557836200|gb|KF606896.1|

Nucleotide
Garymunida squamosa voucher NMV<AUS>:J57243 16S ribosomal RNA gene, partial sequ...
Garymunida squamosa voucher NMV<AUS>:J57243 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|1865527769|gb|MK847979.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004622327	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Apr 3, 2023)	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

SCV004622327

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Apr 3, 2023)

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, SCV004622327.1

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

#	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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