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NM_001258392.3(CLPB):c.249C>T (p.Leu83=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 23, 2021)
Last evaluated:
Mar 16, 2021
Accession:
VCV000506813.3
Variation ID:
506813
Description:
single nucleotide variant
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NM_001258392.3(CLPB):c.249C>T (p.Leu83=)

Allele ID
504037
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.4
Genomic location
11: 72434226 (GRCh38) GRCh38 UCSC
11: 72145270 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.72145270G>A
LRG_1338:g.5459C>T
LRG_1338t1:c.249C>T LRG_1338p1:p.Leu83=
... more HGVS
Protein change
R3C
Other names
-
Canonical SPDI
NC_000011.10:72434225:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA6171639
dbSNP: rs200845330
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 Aug 30, 2019 RCV001453784.1
Likely benign 1 criteria provided, single submitter Mar 16, 2021 RCV001697326.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLPB - - GRCh38
GRCh37
328 337

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely benign
(Mar 16, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000715105.2
Submitted: (Sep 23, 2021)
Likely benign
(Aug 30, 2019)
criteria provided, single submitter
Method: clinical testing
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001657488.1
Submitted: (Jan 07, 2021)

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 rs200845330...

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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 Jan 15, 2022