NM_033026.6(PCLO):c.50C>T (p.Ala17Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 2024
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:
RCV004042218.1

Allele description [Variation Report for NM_033026.6(PCLO):c.50C>T (p.Ala17Val)]

NM_033026.6(PCLO):c.50C>T (p.Ala17Val)

Genes:
LOC129998728:ATAC-STARR-seq lymphoblastoid silent region 18336 [Gene]
PCLO:piccolo presynaptic cytomatrix protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.11
Genomic location:
Preferred name:
NM_033026.6(PCLO):c.50C>T (p.Ala17Val)
HGVS:
  • NC_000007.14:g.83162543G>A
  • NG_047145.1:g.5339C>T
  • NM_014510.3:c.50C>T
  • NM_033026.5:c.50C>T
  • NM_033026.6:c.50C>TMANE SELECT
  • NP_055325.2:p.Ala17Val
  • NP_149015.2:p.Ala17Val
  • NC_000007.13:g.82791859G>A
Protein change:
A17V
Links:
dbSNP: rs1457686283
NCBI 1000 Genomes Browser:
rs1457686283
Molecular consequence:
  • NM_014510.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033026.6:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005001421Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005001421.1

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

Description

The c.50C>T (p.A17V) alteration is located in exon 1 (coding exon 1) of the PCLO gene. This alteration results from a C to T substitution at nucleotide position 50, causing the alanine (A) at amino acid position 17 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024