NM_000540.3(RYR1):c.13998G>A (p.Lys4666=) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 28, 2019
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:: RCV000855483.1

Allele description [Variation Report for NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)]

NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)

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.13998G>A (p.Lys4666=)

HGVS:

NC_000019.10:g.38572270G>A
NG_008866.1:g.143571G>A
NM_000540.3:c.13998G>AMANE SELECT
NM_001042723.2:c.13983G>A
NP_000531.2:p.Lys4666=
NP_001036188.1:p.Lys4661=
LRG_766:g.143571G>A
NC_000019.9:g.39062910G>A
NM_001042723.1:c.13983G>A

Links:

dbSNP: rs1599649479

NCBI 1000 Genomes Browser:

rs1599649479

Molecular consequence:

NM_000540.3:c.13998G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001042723.2:c.13983G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Fetal akinesia deformation sequence 1 (FADS1)
Synonyms:: Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir syndrome type I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989

Name:: Arthrogryposis multiplex congenita (AMC)
Synonyms:: Congenital multiple arthrogryposis; Fibrous ankylosis of multiple joints; Congenital arthromyodysplasia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015168; MeSH: D001176; MedGen: C5779613; Orphanet: 1037; OMIM: PS617468; Human Phenotype Ontology: HP:0002804

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conserved hypothetical protein [Aspergillus fumigatus Af293]
conserved hypothetical protein [Aspergillus fumigatus Af293]
gi|146323291|ref|XP_001481603.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000996613	Cirak Lab, University Hospital Cologne	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 28, 2019)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 31680123

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000996613

Cirak Lab, University Hospital Cologne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 28, 2019)

unknown

research

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
Serbian	unknown	yes	1	not provided	not provided	not provided	not provided	research

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

The genomic and clinical landscape of fetal akinesia.

Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, et al.

Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Erratum in: Genet Med. 2020 Aug;22(8):1426-1428. doi: 10.1038/s41436-020-0839-9.

PubMed [citation]

PMID:: 31680123

Details of each submission

From Cirak Lab, University Hospital Cologne, SCV000996613.1

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

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

Last Updated: Dec 17, 2023

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