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NM_000282.4(PCCA):c.947T>G (p.Met316Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Jan 12, 2017
Accession:
VCV000498769.1
Variation ID:
498769
Description:
single nucleotide variant
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NM_000282.4(PCCA):c.947T>G (p.Met316Arg)

Allele ID
490193
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100273228 (GRCh38) GRCh38 UCSC
13: 100925482 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100925482T>G
NC_000013.11:g.100273228T>G
NM_000282.4:c.947T>G MANE Select NP_000273.2:p.Met316Arg missense
... more HGVS
Protein change
M316R, M1R, M290R
Other names
-
Canonical SPDI
NC_000013.11:100273227:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA388694737
dbSNP: rs137861347
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 12, 2017 RCV000597665.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely pathogenic
(Jan 12, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000703948.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PCCA - - - -

Text-mined citations for rs137861347...

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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 30, 2020