VCV000376081.1 - ClinVar

NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

Likely pathogenic

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)

Variation ID: 376081 Accession: VCV000376081.1

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 7p11.2 7: 55174794 (GRCh38) [ NCBI UCSC ] 7: 55242487 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Mar 8, 2017	Mar 8, 2017	Jul 14, 2015

HGVS

Nucleotide	Protein	Molecular consequence
NM_005228.5:c.2257C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_005219.2:p.Pro753Ser	missense
NM_001346897.2:c.2122C>T	NP_001333826.1:p.Pro708Ser	missense
NM_001346898.2:c.2257C>T	NP_001333827.1:p.Pro753Ser	missense
NM_001346899.2:c.2122C>T	NP_001333828.1:p.Pro708Ser	missense
NM_001346900.2:c.2098C>T	NP_001333829.1:p.Pro700Ser	missense
NM_001346941.2:c.1456C>T	NP_001333870.1:p.Pro486Ser	missense
NC_000007.14:g.55174794C>T
NC_000007.13:g.55242487C>T
NG_007726.3:g.160763C>T
LRG_304:g.160763C>T

... more HGVS ... less HGVS

Protein change

P753S, P486S, P708S, P700S

Other names

Canonical SPDI

NC_000007.14:55174793:C:T

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Exome Aggregation Consortium (ExAC) 0.00001

The Genome Aggregation Database (gnomAD), exomes 0.00001

Links

ClinGen: CA4266020 dbSNP: rs121913231 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
EGFR		No evidence available	No evidence available	GRCh38 GRCh37	3429	3822

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Non-small cell lung carcinoma	Likely pathogenic (1)	no assertion criteria provided	Jul 14, 2015	RCV000436542.1
Head and neck neoplasm	Likely pathogenic (1)	no assertion criteria provided	Dec 26, 2014	RCV000441908.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Likely pathogenic (Jul 14, 2015)	no assertion criteria provided	Non-small cell lung carcinoma (Somatic mutation)	Database of Curated Mutations (DoCM) Accession: SCV000505067.1 First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017	Publications: PubMed (2) PubMed: 18089823‚ 25157968 Other databases http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000275493:c.2257C>T Observation: 1 Collection method: literature only Allele origin: somatic Affected status: yes Observation 1 Collection method: literature only Allele origin: somatic Affected status: yes

Likely pathogenic (Dec 26, 2014)	no assertion criteria provided	Head and neck neoplasm (Somatic mutation)	Database of Curated Mutations (DoCM) Accession: SCV000505068.1 First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017	Publications: PubMed (1) PubMed: 24934779 Other databases http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000275493:c.2257C>T Observation: 1 Collection method: literature only Allele origin: somatic Affected status: yes Observation 1 Collection method: literature only Allele origin: somatic Affected status: yes

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Epidermal Growth Factor Receptor P753S Mutation in Cutaneous Squamous Cell Carcinoma Responsive to Cetuximab-Based Therapy.	Ganesan P	Journal of clinical oncology : official journal of the American Society of Clinical Oncology	2016	PMID: 24934779
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.	MacConaill LE	The Journal of molecular diagnostics : JMD	2014	PMID: 25157968
PF00299804, an irreversible pan-ERBB inhibitor, is effective in lung cancer models with EGFR and ERBB2 mutations that are resistant to gefitinib.	Engelman JA	Cancer research	2007	PMID: 18089823
http://docm.genome.wustl.edu/variants/ENST00000275493:c.2257C>T	-	-	-	-

Text-mined citations for rs121913231 ...

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 Dec 22, 2024