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NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jul 1, 2020
Review status:
criteria provided, conflicting classifications
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:
RCV000520157.25

Allele description [Variation Report for NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del)]

NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del)
HGVS:
  • NC_000019.10:g.38580038CTT[2]
  • NG_008866.1:g.151339CTT[2]
  • NM_000540.3:c.14421CTT[2]MANE SELECT
  • NM_001042723.2:c.14406CTT[2]
  • NP_000531.2:p.Phe4810del
  • NP_001036188.1:p.Phe4805del
  • LRG_766:g.151339CTT[2]
  • NC_000019.9:g.39070678CTT[2]
  • NC_000019.9:g.39070678_39070680del
  • NM_000540.2:c.14427_14429delCTT
Protein change:
F4805del
Links:
dbSNP: rs1555803810
NCBI 1000 Genomes Browser:
rs1555803810
Molecular consequence:
  • NM_000540.3:c.14421CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042723.2:c.14406CTT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000617754GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 7, 2018) 		germlineclinical testing

Citation Link,

SCV001371008CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely pathogenic
(Jul 1, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000617754.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the RYR1gene. The c.14427_14429delCTT variant has been reported previously (using alternative nomenclature) in trans with a missense variant in an individual with a RYR1-related myopathy (Bharucha-Goebel et al., 2013) The c.14427_14429delCTT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.14427_14429delCTT variant results in an in-frame deletion of one amino acid, denoted p.Phe4810del. In silico analysis predicts this variant is probably damaging to the protein structure/function. The deleted amnio acid occurs at a position that is conserved. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV001371008.22

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Aug 4, 2024