NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) AND Unverricht-Lundborg syndrome

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Nov 1, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001784328.6

Allele description [Variation Report for NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)]

NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)

Genes:

LOC130066788:ATAC-STARR-seq lymphoblastoid silent region 13368 [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.64C>T (p.Gln22Ter)

HGVS:

NC_000021.9:g.43776206G>A
NG_011545.1:g.5173C>T
NM_000100.4:c.64C>TMANE SELECT
NP_000091.1:p.Gln22Ter
NP_000091.1:p.Gln22Ter
LRG_485t1:c.64C>T
LRG_485:g.5173C>T
LRG_485p1:p.Gln22Ter
NC_000021.8:g.45196087G>A
NM_000100.3:c.64C>T

Protein change:

Q22*

Links:

dbSNP: rs1569006250

NCBI 1000 Genomes Browser:

rs1569006250

Molecular consequence:

NM_000100.4:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002023428	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 1, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004171848	Neuberg Centre For Genomic Medicine, NCGM	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	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

SCV002023428

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 1, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004171848

Neuberg Centre For Genomic Medicine, NCGM

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
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 Revvity Omics, Revvity, SCV002023428.3

#	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

From Neuberg Centre For Genomic Medicine, NCGM, SCV004171848.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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