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NM_007055.4(POLR3A):c.601del (p.Ile201fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 27, 2021)
Last evaluated:
Oct 29, 2019
Accession:
VCV000684774.6
Variation ID:
684774
Description:
1bp deletion
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NM_007055.4(POLR3A):c.601del (p.Ile201fs)

Allele ID
672366
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 78024593 (GRCh38) GRCh38 UCSC
10: 79784351 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.79784351del
NC_000010.11:g.78024593del
NG_029648.1:g.9948del
... more HGVS
Protein change
I201fs
Other names
-
Canonical SPDI
NC_000010.11:78024592:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs777280350
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Nov 23, 2018 RCV000845270.4
Pathogenic 1 criteria provided, single submitter Oct 29, 2019 RCV001009158.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POLR3A - - GRCh38
GRCh37
424 440

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: research
LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
HLD7
(Autosomal recessive inheritance)
Allele origin: inherited
MyeliNeuroGene Lab,McGill University Health Center Research Institute
Accession: SCV000987275.1
Submitted: (Aug 16, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Nov 23, 2018)
criteria provided, single submitter
Method: clinical testing
Hypomyelinating leukodystrophy 7
(Autosomal recessive inheritance)
Allele origin: maternal
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV001150224.1
Submitted: (Jan 21, 2020)
Evidence details
Pathogenic
(Oct 29, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001168974.2
Submitted: (Sep 27, 2021)
Evidence details
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Clear cell sarcoma of tendons and aponeurosis--a case report. Mohan SR Indian journal of pathology & microbiology 1977 PMID: 614258

Text-mined citations for rs777280350...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 21, 2021