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NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 23, 2020
Accession:
VCV000835996.3
Variation ID:
835996
Description:
single nucleotide variant
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NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)

Allele ID
840491
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100527735 (GRCh38) GRCh38 UCSC
13: 101179989 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.101179989G>C
NC_000013.11:g.100527735G>C
NG_008768.1:g.443653G>C
... more HGVS
Protein change
A627P, A675P, A386P, A653P, A701P, A338P, A368P, A628P, A654P, A683P
Other names
-
Canonical SPDI
NC_000013.11:100527734:G:C
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 2 criteria provided, single submitter Sep 23, 2020 RCV001037015.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCCA - - GRCh38
GRCh37
509 598

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 23, 2020)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Invitae
Accession: SCV001200406.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with proline at codon 701 of the PCCA protein (p.Ala701Pro). The alanine residue is highly conserved and there is a … (more)
Uncertain significance
(Apr 17, 2020)
no assertion criteria provided
Method: clinical testing
Propionic acidemia
Allele origin: germline
Natera, Inc.
Accession: SCV001463926.1
Submitted: (Dec 28, 2020)
Evidence details

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