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NM_005228.5(EGFR):c.2573_2574delinsGT (p.Leu858Arg)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 18, 2016)
Last evaluated:
Jul 14, 2015
Accession:
VCV000376282.1
Variation ID:
376282
Description:
2bp indel
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NM_005228.5(EGFR):c.2573_2574delinsGT (p.Leu858Arg)

Allele ID
363161
Variant type
Indel
Variant length
2 bp
Cytogenetic location
7p11.2
Genomic location
7: 55191822-55191823 (GRCh38) GRCh38 UCSC
7: 55259515-55259516 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.55191822_55191823delinsGT
NC_000007.13:g.55259515_55259516delinsGT
NM_005228.5:c.2573_2574delinsGT MANE Select NP_005219.2:p.Leu858Arg missense
... more HGVS
Protein change
L813R, L805R, L858R, L591R
Other names
-
Canonical SPDI
NC_000007.14:55191821:TG:GT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602730
dbSNP: rs1057519848
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 no assertion criteria provided Jul 14, 2015 RCV000425876.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EGFR - - GRCh38
GRCh37
1191 1315

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Non-small cell lung cancer
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505570.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

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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Title Author Journal Year Link
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
http://docm.genome.wustl.edu/variants/ENST00000275493:c.2573TG>GT - - - -

Text-mined citations for rs1057519848...

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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 Apr 12, 2021