NM_000100.4(CSTB):c.235C>T (p.Pro79Ser) AND Progressive myoclonic epilepsy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 14, 2021
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:: RCV001913057.6

Allele description [Variation Report for NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)]

NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)

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.235C>T (p.Pro79Ser)

HGVS:

NC_000021.9:g.43774264G>A
NG_011545.1:g.7115C>T
NM_000100.4:c.235C>TMANE SELECT
NP_000091.1:p.Pro79Ser
LRG_485:g.7115C>T
NC_000021.8:g.45194145G>A
NM_000100.2:c.235C>T

Protein change:

P79S

Links:

dbSNP: rs766285245

NCBI 1000 Genomes Browser:

rs766285245

Molecular consequence:

NM_000100.4:c.235C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Progressive myoclonic epilepsy
Synonyms:: Myoclonic Epilepsies, Progressive; Familial progressive myoclonic epilepsy; Progressive myoclonus epilepsy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0020074; MedGen: C0751778; Orphanet: 308; OMIM: PS254800

Recent activity

Clear Turn Off Turn On

SRX9092879 (1)
SRA

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002175946	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 14, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23091450, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002175946

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 14, 2021)

germline

clinical testing

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mapping local structural perturbations in the native state of stefin B (cystatin B) under amyloid forming conditions.

Paramore R, Morgan GJ, Davis PJ, Sharma CA, Hounslow A, Taler-Verčič A, Zerovnik E, Waltho JP, Cliff MJ, Staniforth RA.

Front Mol Neurosci. 2012;5:94. doi: 10.3389/fnmol.2012.00094.

PubMed [citation]

PMID:: 23091450
PMCID:: PMC3469841

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002175946.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this variant affects CSTB protein function (PMID: 23091450). This sequence change replaces proline with serine at codon 79 of the CSTB protein (p.Pro79Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs766285245, ExAC 0.003%). This variant has not been reported in the literature in individuals with CSTB-related conditions.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine