NM_000100.4(CSTB):c.121G>A (p.Val41Met) AND Unverricht-Lundborg syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely benign(1);Uncertain significance(1) (Last evaluated: Jul 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000624931.4

Allele description [Variation Report for NM_000100.4(CSTB):c.121G>A (p.Val41Met)]

NM_000100.4(CSTB):c.121G>A (p.Val41Met)

Gene:
CSTB:cystatin B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
Other names:
p.V41M:GTG>ATG
HGVS:
  • NC_000021.9:g.43774705C>T
  • NG_011545.1:g.6674G>A
  • NM_000100.4:c.121G>AMANE SELECT
  • NP_000091.1:p.Val41Met
  • NP_000091.1:p.Val41Met
  • LRG_485t1:c.121G>A
  • LRG_485:g.6674G>A
  • LRG_485p1:p.Val41Met
  • NC_000021.8:g.45194586C>T
  • NM_000100.2:c.121G>A
  • NM_000100.3:c.121G>A
Protein change:
V41M
Links:
dbSNP: rs143153487
NCBI 1000 Genomes Browser:
rs143153487
Molecular consequence:
  • NM_000100.4:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Unverricht-Lundborg syndrome
Synonyms:
Epilepsy, progressive myoclonus 1; Myoclonic epilepsy of Unverricht and Lundborg; Epilepsy, progressive myoclonic type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009698; MedGen: C0751785; Orphanet: 308; OMIM: 254800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000743130Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensuscriteria provided, single submitter
Benign
(Jul 28, 2017)
germlineclinical testing

Citation Link,

SCV000744131Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensuscriteria provided, single submitter
Likely benign
(Sep 29, 2016)
germlineclinical testing

Citation Link,

SCV001303485Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743130.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744131.1

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

From Illumina Clinical Services Laboratory,Illumina, SCV001303485.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Dec 4, 2021

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