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NM_007055.4(POLR3A):c.2493A>T (p.Lys831Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 21, 2021)
Last evaluated:
Nov 25, 2019
Accession:
VCV001030181.1
Variation ID:
1030181
Description:
single nucleotide variant
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NM_007055.4(POLR3A):c.2493A>T (p.Lys831Asn)

Allele ID
1017324
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 78000104 (GRCh38) GRCh38 UCSC
10: 79759862 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.79759862T>A
NC_000010.11:g.78000104T>A
NG_029648.1:g.34437A>T
NM_007055.4:c.2493A>T MANE Select NP_008986.2:p.Lys831Asn missense
Protein change
K831N
Other names
-
Canonical SPDI
NC_000010.11:78000103:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 25, 2019 RCV001331677.1
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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
Uncertain significance
(Nov 25, 2019)
criteria provided, single submitter
Method: clinical testing
Hypomyelinating leukodystrophy 7
Allele origin: unknown
Baylor Genetics
Accession: SCV001523771.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021