dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs121913428
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr7:55174015 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
None
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- EGFR : Missense Variant
- Publications
- 18 citations
- Genomic View
- See rs on genome
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.55174015G>A |
| GRCh38.p14 chr 7 | NC_000007.14:g.55174015G>C |
| GRCh37.p13 chr 7 | NC_000007.13:g.55241708G>A |
| GRCh37.p13 chr 7 | NC_000007.13:g.55241708G>C |
| EGFR RefSeqGene (LRG_304) | NG_007726.3:g.159984G>A |
| EGFR RefSeqGene (LRG_304) | NG_007726.3:g.159984G>C |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| EGFR transcript variant 2 | NM_201282.2:c. | N/A | Genic Downstream Transcript Variant |
| EGFR transcript variant 3 | NM_201283.2:c. | N/A | Genic Downstream Transcript Variant |
| EGFR transcript variant 4 | NM_201284.2:c. | N/A | Genic Downstream Transcript Variant |
| EGFR transcript variant 1 | NM_005228.5:c.2156G>A | G [GGC] > D [GAC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform a precursor | NP_005219.2:p.Gly719Asp | G (Gly) > D (Asp) | Missense Variant |
| EGFR transcript variant 1 | NM_005228.5:c.2156G>C | G [GGC] > A [GCC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform a precursor | NP_005219.2:p.Gly719Ala | G (Gly) > A (Ala) | Missense Variant |
| EGFR transcript variant 6 | NM_001346898.2:c.2156G>A | G [GGC] > D [GAC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform f precursor | NP_001333827.1:p.Gly719Asp | G (Gly) > D (Asp) | Missense Variant |
| EGFR transcript variant 6 | NM_001346898.2:c.2156G>C | G [GGC] > A [GCC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform f precursor | NP_001333827.1:p.Gly719Ala | G (Gly) > A (Ala) | Missense Variant |
| EGFR transcript variant EGFRvIII | NM_001346941.2:c.1355G>A | G [GGC] > D [GAC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform i precursor | NP_001333870.1:p.Gly452Asp | G (Gly) > D (Asp) | Missense Variant |
| EGFR transcript variant EGFRvIII | NM_001346941.2:c.1355G>C | G [GGC] > A [GCC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform i precursor | NP_001333870.1:p.Gly452Ala | G (Gly) > A (Ala) | Missense Variant |
| EGFR transcript variant 8 | NM_001346900.2:c.1997G>A | G [GGC] > D [GAC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform h | NP_001333829.1:p.Gly666Asp | G (Gly) > D (Asp) | Missense Variant |
| EGFR transcript variant 8 | NM_001346900.2:c.1997G>C | G [GGC] > A [GCC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform h | NP_001333829.1:p.Gly666Ala | G (Gly) > A (Ala) | Missense Variant |
| EGFR transcript variant 5 | NM_001346897.2:c.2021G>A | G [GGC] > D [GAC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform e precursor | NP_001333826.1:p.Gly674Asp | G (Gly) > D (Asp) | Missense Variant |
| EGFR transcript variant 5 | NM_001346897.2:c.2021G>C | G [GGC] > A [GCC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform e precursor | NP_001333826.1:p.Gly674Ala | G (Gly) > A (Ala) | Missense Variant |
| EGFR transcript variant 7 | NM_001346899.2:c.2021G>A | G [GGC] > D [GAC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform g precursor | NP_001333828.1:p.Gly674Asp | G (Gly) > D (Asp) | Missense Variant |
| EGFR transcript variant 7 | NM_001346899.2:c.2021G>C | G [GGC] > A [GCC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform g precursor | NP_001333828.1:p.Gly674Ala | G (Gly) > A (Ala) | Missense Variant |
| EGFR transcript variant X1 | XM_047419952.1:c.1997G>A | G [GGC] > D [GAC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform X1 | XP_047275908.1:p.Gly666Asp | G (Gly) > D (Asp) | Missense Variant |
| EGFR transcript variant X1 | XM_047419952.1:c.1997G>C | G [GGC] > A [GCC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform X1 | XP_047275908.1:p.Gly666Ala | G (Gly) > A (Ala) | Missense Variant |
| EGFR transcript variant X2 | XM_047419953.1:c.1997G>A | G [GGC] > D [GAC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform X1 | XP_047275909.1:p.Gly666Asp | G (Gly) > D (Asp) | Missense Variant |
| EGFR transcript variant X2 | XM_047419953.1:c.1997G>C | G [GGC] > A [GCC] | Coding Sequence Variant |
| epidermal growth factor receptor isoform X1 | XP_047275909.1:p.Gly666Ala | G (Gly) > A (Ala) | Missense Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000418583.1 | Non-small cell lung carcinoma | Likely-Pathogenic |
| RCV000420993.1 | Squamous cell lung carcinoma | Likely-Pathogenic |
| RCV000428419.1 | Glioblastoma | Likely-Pathogenic |
| RCV000439067.1 | Lung adenocarcinoma | Likely-Pathogenic |
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000038381.6 | Non-small cell lung carcinoma | Pathogenic |
| RCV000426037.1 | Glioblastoma | Likely-Pathogenic |
| RCV000436293.1 | Lung adenocarcinoma | Likely-Pathogenic |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A | C |
|---|---|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.55174015= | NC_000007.14:g.55174015G>A | NC_000007.14:g.55174015G>C |
| GRCh37.p13 chr 7 | NC_000007.13:g.55241708= | NC_000007.13:g.55241708G>A | NC_000007.13:g.55241708G>C |
| EGFR RefSeqGene (LRG_304) | NG_007726.3:g.159984= | NG_007726.3:g.159984G>A | NG_007726.3:g.159984G>C |
| EGFR transcript variant 1 | NM_005228.5:c.2156= | NM_005228.5:c.2156G>A | NM_005228.5:c.2156G>C |
| EGFR transcript variant 1 | NM_005228.4:c.2156= | NM_005228.4:c.2156G>A | NM_005228.4:c.2156G>C |
| EGFR transcript variant 1 | NM_005228.3:c.2156= | NM_005228.3:c.2156G>A | NM_005228.3:c.2156G>C |
| EGFR transcript variant 7 | NM_001346899.2:c.2021= | NM_001346899.2:c.2021G>A | NM_001346899.2:c.2021G>C |
| EGFR transcript variant 7 | NM_001346899.1:c.2021= | NM_001346899.1:c.2021G>A | NM_001346899.1:c.2021G>C |
| EGFR transcript variant 8 | NM_001346900.2:c.1997= | NM_001346900.2:c.1997G>A | NM_001346900.2:c.1997G>C |
| EGFR transcript variant 8 | NM_001346900.1:c.1997= | NM_001346900.1:c.1997G>A | NM_001346900.1:c.1997G>C |
| EGFR transcript variant EGFRvIII | NM_001346941.2:c.1355= | NM_001346941.2:c.1355G>A | NM_001346941.2:c.1355G>C |
| EGFR transcript variant EGFRvIII | NM_001346941.1:c.1355= | NM_001346941.1:c.1355G>A | NM_001346941.1:c.1355G>C |
| EGFR transcript variant 6 | NM_001346898.2:c.2156= | NM_001346898.2:c.2156G>A | NM_001346898.2:c.2156G>C |
| EGFR transcript variant 6 | NM_001346898.1:c.2156= | NM_001346898.1:c.2156G>A | NM_001346898.1:c.2156G>C |
| EGFR transcript variant 5 | NM_001346897.2:c.2021= | NM_001346897.2:c.2021G>A | NM_001346897.2:c.2021G>C |
| EGFR transcript variant 5 | NM_001346897.1:c.2021= | NM_001346897.1:c.2021G>A | NM_001346897.1:c.2021G>C |
| EGFR transcript variant X1 | XM_047419952.1:c.1997= | XM_047419952.1:c.1997G>A | XM_047419952.1:c.1997G>C |
| EGFR transcript variant X2 | XM_047419953.1:c.1997= | XM_047419953.1:c.1997G>A | XM_047419953.1:c.1997G>C |
| epidermal growth factor receptor isoform a precursor | NP_005219.2:p.Gly719= | NP_005219.2:p.Gly719Asp | NP_005219.2:p.Gly719Ala |
| epidermal growth factor receptor isoform g precursor | NP_001333828.1:p.Gly674= | NP_001333828.1:p.Gly674Asp | NP_001333828.1:p.Gly674Ala |
| epidermal growth factor receptor isoform h | NP_001333829.1:p.Gly666= | NP_001333829.1:p.Gly666Asp | NP_001333829.1:p.Gly666Ala |
| epidermal growth factor receptor isoform i precursor | NP_001333870.1:p.Gly452= | NP_001333870.1:p.Gly452Asp | NP_001333870.1:p.Gly452Ala |
| epidermal growth factor receptor isoform f precursor | NP_001333827.1:p.Gly719= | NP_001333827.1:p.Gly719Asp | NP_001333827.1:p.Gly719Ala |
| epidermal growth factor receptor isoform e precursor | NP_001333826.1:p.Gly674= | NP_001333826.1:p.Gly674Asp | NP_001333826.1:p.Gly674Ala |
| epidermal growth factor receptor isoform X1 | XP_047275908.1:p.Gly666= | XP_047275908.1:p.Gly666Asp | XP_047275908.1:p.Gly666Ala |
| epidermal growth factor receptor isoform X1 | XP_047275909.1:p.Gly666= | XP_047275909.1:p.Gly666Asp | XP_047275909.1:p.Gly666Ala |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | DF-BWCC | ss275515292 | Nov 22, 2010 (133) |
| 2 | DF-BWCC | ss275515294 | Nov 22, 2010 (133) |
| 3 | CSS-BFX | ss5442108709 | Oct 14, 2022 (156) |
| 4 | CSS-BFX | ss5442108710 | Oct 14, 2022 (156) |
| 5 | EVA | ss5512433101 | Oct 14, 2022 (156) |
| 6 | EVA | ss5935864412 | Oct 14, 2022 (156) |
| 7 | ClinVar | RCV000038381.6 | Oct 14, 2022 (156) |
| 8 | ClinVar | RCV000418583.1 | Oct 12, 2018 (152) |
| 9 | ClinVar | RCV000420993.1 | Oct 12, 2018 (152) |
| 10 | ClinVar | RCV000426037.1 | Oct 12, 2018 (152) |
| 11 | ClinVar | RCV000428419.1 | Oct 12, 2018 (152) |
| 12 | ClinVar | RCV000436293.1 | Oct 12, 2018 (152) |
| 13 | ClinVar | RCV000439067.1 | Oct 12, 2018 (152) |
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs121913429 | May 06, 2011 (133) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss5442108709, ss5512433101, ss5935864412 | NC_000007.13:55241707:G:A | NC_000007.14:55174014:G:A | |
| RCV000418583.1, RCV000420993.1, RCV000428419.1, RCV000439067.1, ss275515294 | NC_000007.14:55174014:G:A | NC_000007.14:55174014:G:A | (self) |
| ss5442108710, ss5512433101, ss5935864412 | NC_000007.13:55241707:G:C | NC_000007.14:55174014:G:C | |
| RCV000038381.6, RCV000426037.1, RCV000436293.1, ss275515292 | NC_000007.14:55174014:G:C | NC_000007.14:55174014:G:C | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 2302402 | Effects of marine oil-enriched diets on guinea pig megakaryocyte and platelet lipids: effects on thromboxane synthesis and platelet function. | Schick PK et al. | 1990 | Biochimica et biophysica acta |
| 15118073 | Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. | Lynch TJ et al. | 2004 | The New England journal of medicine |
| 15118125 | EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. | Paez JG et al. | 2004 | Science (New York, N.Y.) |
| 15329413 | EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. | Pao W et al. | 2004 | Proceedings of the National Academy of Sciences of the United States of America |
| 15710947 | Predictive and prognostic impact of epidermal growth factor receptor mutation in non-small-cell lung cancer patients treated with gefitinib. | Han SW et al. | 2005 | Journal of clinical oncology |
| 15738541 | Mutations of the epidermal growth factor receptor gene predict prolonged survival after gefitinib treatment in patients with non-small-cell lung cancer with postoperative recurrence. | Mitsudomi T et al. | 2005 | Journal of clinical oncology |
| 16011858 | Mutations in the tyrosine kinase domain of the EGFR gene associated with gefitinib response in non-small-cell lung cancer. | Rosell R et al. | 2005 | Lung cancer (Amsterdam, Netherlands) |
| 16115929 | Activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor are associated with improved survival in gefitinib-treated chemorefractory lung adenocarcinomas. | Taron M et al. | 2005 | Clinical cancer research |
| 18458038 | First-line gefitinib in patients with advanced non-small-cell lung cancer harboring somatic EGFR mutations. | Sequist LV et al. | 2008 | Journal of clinical oncology |
| 19922469 | Epidermal growth factor receptor in relation to tumor development: EGFR gene and cancer. | Mitsudomi T et al. | 2010 | The FEBS journal |
| 20479403 | Neratinib, an irreversible pan-ErbB receptor tyrosine kinase inhibitor: results of a phase II trial in patients with advanced non-small-cell lung cancer. | Sequist LV et al. | 2010 | Journal of clinical oncology |
| 21531810 | Effectiveness of tyrosine kinase inhibitors on "uncommon" epidermal growth factor receptor mutations of unknown clinical significance in non-small cell lung cancer. | Wu JY et al. | 2011 | Clinical cancer research |
| 22753918 | Randomized phase II study of dacomitinib (PF-00299804), an irreversible pan-human epidermal growth factor receptor inhibitor, versus erlotinib in patients with advanced non-small-cell lung cancer. | Ramalingam SS et al. | 2012 | Journal of clinical oncology |
| 23102728 | MEK inhibitors reverse resistance in epidermal growth factor receptor mutation lung cancer cells with acquired resistance to gefitinib. | Huang MH et al. | 2013 | Molecular oncology |
| 23242437 | Compound EGFR mutations and response to EGFR tyrosine kinase inhibitors. | Kobayashi S et al. | 2013 | Journal of thoracic oncology |
| 24033266 | A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H et al. | 2013 | Clinical genetics |
| 25157968 | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | MacConaill LE et al. | 2014 | The Journal of molecular diagnostics |
| 26619011 | Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | Chang MT et al. | 2016 | Nature biotechnology |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.