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NM_003383.5(VLDLR):c.1162C>T (p.Leu388=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000212552.3
Variation ID:
212552
Description:
single nucleotide variant
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NM_003383.5(VLDLR):c.1162C>T (p.Leu388=)

Allele ID
207716
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.2
Genomic location
9: 2644829 (GRCh38) GRCh38 UCSC
9: 2644829 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.2644829C>T
NC_000009.12:g.2644829C>T
NM_003383.5:c.1162C>T MANE Select NP_003374.3:p.Leu388= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:2644828:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00038
The Genome Aggregation Database (gnomAD) 0.00118
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00100
Exome Aggregation Consortium (ExAC) 0.00037
Trans-Omics for Precision Medicine (TOPMed) 0.00162
1000 Genomes Project 0.00120
Links
ClinGen: CA206345
dbSNP: rs114172780
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 8, 2018 RCV000193094.3
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000947151.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VLDLR - - GRCh38
GRCh37
232 449

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 05, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000249377.2
Submitted: (Oct 04, 2017)
Evidence details
Likely benign
(Mar 08, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000526020.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001093322.2
Submitted: (Jan 29, 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.

Text-mined citations for rs114172780...

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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 May 27, 2021