NM_000540.3(RYR1):c.1441-32T>C AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 18, 2013
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:: RCV000253844.5

Allele description [Variation Report for NM_000540.3(RYR1):c.1441-32T>C]

NM_000540.3(RYR1):c.1441-32T>C

Genes:

LOC129391106:MPRA-validated peak3472 silencer [Gene]
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000540.3(RYR1):c.1441-32T>C

HGVS:

NC_000019.10:g.38455203T>C
NG_008866.1:g.26504T>C
NM_000540.3:c.1441-32T>CMANE SELECT
NM_001042723.2:c.1441-32T>C
LRG_766t1:c.1441-32T>C
LRG_766:g.26504T>C
NC_000019.9:g.38945843T>C
NM_000540.2:c.1441-32T>C

Links:

dbSNP: rs113890189

NCBI 1000 Genomes Browser:

rs113890189

Molecular consequence:

NM_000540.3:c.1441-32T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001042723.2:c.1441-32T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Homo sapiens dynein axonemal light intermediate chain 1 (DNALI1), mRNA
Homo sapiens dynein axonemal light intermediate chain 1 (DNALI1), mRNA
gi|37595559|ref|NM_003462.3|

Nucleotide
LOC101162162 [Oryzias latipes]
LOC101162162 [Oryzias latipes]
Gene ID:101162162

Gene
essv11438891 (2)
dbVar
essv11438979 (2)
dbVar
essv5672964 (2)
dbVar

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000304846	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Oct 18, 2013)	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

SCV000304846

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Oct 18, 2013)

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000304846.2

#	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: Mar 10, 2024

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