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NC_000001.10:g.33256785C>T

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 4, 2020
Accession:
VCV001009954.1
Variation ID:
1009954
Description:
single nucleotide variant
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NC_000001.10:g.33256785C>T

Allele ID
987478
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p35.1
Genomic location
1: 32791184 (GRCh38) GRCh38 UCSC
1: 33256785 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.32791184C>T
NC_000001.10:g.33256785C>T
LRG_273t1:c.662G>A LRG_273p1:p.Ser221Asn
... more HGVS
Protein change
S221N
Other names
-
Canonical SPDI
NC_000001.11:32791183:C:T
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 Jun 4, 2020 RCV001307518.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
YARS1 - - GRCh38
GRCh37
246 292

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 04, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate C
Allele origin: germline
Invitae
Accession: SCV001496934.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with asparagine at codon 221 of the YARS protein (p.Ser221Asn). The serine residue is moderately conserved and there is a … (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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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 Jun 14, 2021