NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) AND Progressive myoclonus epilepsy with ataxia

Clinical significance:Benign (Last evaluated: Dec 5, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001517089.1

Allele description [Variation Report for NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)]

NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)

Gene:
PRICKLE1:prickle planar cell polarity protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
Preferred name:
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)
HGVS:
  • NC_000012.12:g.42460403A>G
  • NG_012965.1:g.134368T>C
  • NM_001144881.2:c.1902T>C
  • NM_001144882.2:c.1902T>C
  • NM_001144883.2:c.1902T>C
  • NM_153026.3:c.1902T>CMANE SELECT
  • NP_001138353.1:p.Ser634=
  • NP_001138354.1:p.Ser634=
  • NP_001138355.1:p.Ser634=
  • NP_694571.2:p.Ser634=
  • NC_000012.11:g.42854205A>G
  • NM_153026.2:c.1902T>C
  • NP_694571.2:p.(=)
Links:
dbSNP: rs3747562
NCBI 1000 Genomes Browser:
rs3747562
Molecular consequence:
  • NM_001144881.2:c.1902T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001144882.2:c.1902T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001144883.2:c.1902T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_153026.3:c.1902T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Progressive myoclonus epilepsy with ataxia (EPM1B)
Synonyms:
EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia; PME
Identifiers:
MONDO: MONDO:0012904; MedGen: C2676254; Orphanet: 308; OMIM: 612437

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001725503Invitaecriteria provided, single submitter
Benign
(Dec 5, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001725503.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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