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NM_000282.4(PCCA):c.2040+9TG[5]

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Apr 9, 2018
Accession:
VCV000557857.1
Variation ID:
557857
Description:
2bp microsatellite
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NM_000282.4(PCCA):c.2040+9TG[5]

Allele ID
546911
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
13q32.3
Genomic location
13: 100515575-100515576 (GRCh38) GRCh38 UCSC
13: 101167829-101167830 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.101167831_101167832GT[5]
NC_000013.11:g.100515577_100515578GT[5]
NG_008768.1:g.431495_431496GT[5]
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:100515575:TGTGTGTGT:TGTGTGTGTGT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs751014655
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 9, 2018 RCV000674050.1
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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
510 599

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 09, 2018)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: unknown
Counsyl
Accession: SCV000799323.1
Submitted: (Jul 10, 2018)
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.

Text-mined citations for rs751014655...

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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 08, 2021