ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Uncertain significance
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Jan 31, 2015
- Most recent Submission:
- Jan 31, 2015
- Last evaluated:
- Apr 21, 2011
- Accession:
- VCV000045285.4
- Variation ID:
- 45285
- Description:
- single nucleotide variant
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NM_005228.5(EGFR):c.2574G>T (p.Leu858=)
- Allele ID
- 54452
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 7p11.2
- Genomic location
- 7: 55191823 (GRCh38) GRCh38 UCSC
- 7: 55259516 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_005228.5:c.2574G>T MANE Select NP_005219.2:p.Leu858= synonymous NM_001346897.2:c.2439G>T NP_001333826.1:p.Leu813= synonymous NM_001346898.2:c.2574G>T NP_001333827.1:p.Leu858= synonymous NM_001346899.2:c.2439G>T NP_001333828.1:p.Leu813= synonymous NM_001346900.2:c.2415G>T NP_001333829.1:p.Leu805= synonymous NM_001346941.2:c.1773G>T NP_001333870.1:p.Leu591= synonymous NC_000007.14:g.55191823G>T NC_000007.13:g.55259516G>T NG_007726.3:g.177792G>T LRG_304:g.177792G>T LRG_304t1:c.2574G>T - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000007.14:55191822:G:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA135936
- dbSNP: rs397517129
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Uncertain significance | 1 | criteria provided, single submitter | Apr 21, 2011 | RCV000038441.5 |
Help
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help | TS score Help | Within gene | All | |||
| EGFR | No evidence available | No evidence available |
GRCh38 GRCh37 |
1921 | 2091 | |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Apr 21, 2011)
|
criteria provided, single submitter
Method: clinical testing
|
Not Specified
Affected status: not provided
Allele origin:
somatic
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000062113.3
First in ClinVar: May 03, 2013 Last updated: Jan 31, 2015 |
Number of individuals with the variant: 1
|
Functional evidence
Help| 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
Help| 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 rs397517129...
HelpThese 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 Dec 24, 2022