NM_033026.6(PCLO):c.6174A>G (p.Leu2058=) AND Pontocerebellar hypoplasia type 3

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 26, 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:: RCV002505452.1

Allele description [Variation Report for NM_033026.6(PCLO):c.6174A>G (p.Leu2058=)]

NM_033026.6(PCLO):c.6174A>G (p.Leu2058=)

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.6174A>G (p.Leu2058=)

HGVS:

NC_000007.14:g.82954779T>C
NG_047145.1:g.213103A>G
NM_014510.3:c.6174A>G
NM_033026.6:c.6174A>GMANE SELECT
NP_055325.2:p.Leu2058=
NP_149015.2:p.Leu2058=
NC_000007.13:g.82584095T>C
NM_033026.5:c.6174A>G

Links:

dbSNP: rs147497968

NCBI 1000 Genomes Browser:

rs147497968

Molecular consequence:

NM_014510.3:c.6174A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_033026.6:c.6174A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Pontocerebellar hypoplasia type 3 (PCH3)
Synonyms:: Cerebellar atrophy with progressive microcephaly; PCH with optic atrophy
Identifiers:: MONDO: MONDO:0011948; MedGen: C1842687; Orphanet: 97249; OMIM: 608027

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RNA polymerase subunit 1 [African swine fever virus]
RNA polymerase subunit 1 [African swine fever virus]
gi|723633597|gb|AIY22448.1|

Protein
azo3556 AND (alive[prop]) (0)
Gene
lwe1904 AND (alive[prop]) (0)
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azo0587 AND (alive[prop]) (0)
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lwe2366 AND (alive[prop]) (0)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002806366	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Oct 26, 2021)	unknown	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

SCV002806366

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Oct 26, 2021)

unknown

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	unknown	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 Fulgent Genetics, Fulgent Genetics, SCV002806366.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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