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NM_001040716.2(PC):c.3306dup (p.Lys1103fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 24, 2020)
Last evaluated:
Sep 6, 2019
Accession:
VCV000930539.2
Variation ID:
930539
Description:
1bp duplication
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NM_001040716.2(PC):c.3306dup (p.Lys1103fs)

Allele ID
919384
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 66849129-66849130 (GRCh38) GRCh38 UCSC
11: 66616600-66616601 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.66849133dup
NC_000011.9:g.66616604dup
NM_001040716.2:c.3306dup MANE Select NP_001035806.1:p.Lys1103fs frameshift
... more HGVS
Protein change
K1103fs
Other names
-
Canonical SPDI
NC_000011.10:66849129:GGGG:GGGGG
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
Likely pathogenic 1 criteria provided, single submitter Sep 6, 2019 RCV001196289.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PC - - GRCh38
GRCh37
545 558

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 06, 2019)
criteria provided, single submitter
Method: clinical testing
Pyruvate carboxylase deficiency
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001366869.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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 Dec 12, 2020