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NM_133259.4(LRPPRC):c.1915A>G (p.Ile639Val)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 26, 2018)
Last evaluated:
Feb 20, 2014
Accession:
VCV000214588.1
Variation ID:
214588
Description:
single nucleotide variant
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NM_133259.4(LRPPRC):c.1915A>G (p.Ile639Val)

Allele ID
210843
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 43948127 (GRCh38) GRCh38 UCSC
2: 44175266 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44175266T>C
NC_000002.12:g.43948127T>C
NM_133259.4:c.1915A>G MANE Select NP_573566.2:p.Ile639Val missense
NG_008247.1:g.52879A>G
Protein change
I639V
Other names
p.I639V:ATT>GTT
Canonical SPDI
NC_000002.12:43948126:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA323630
dbSNP: rs863224050
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 Feb 20, 2014 RCV000199092.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LRPPRC - - GRCh38
GRCh37
785 806

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 20, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000251653.11
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)

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 rs863224050...

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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 Feb 27, 2021