VCV000177765.5 - ClinVar

NM_005228.5(EGFR):c.2239_2247del (p.Leu747_Glu749del)

Germline

Classification

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

drug response

This classification is based on the single submission received

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_005228.5(EGFR):c.2239_2247del (p.Leu747_Glu749del)

Variation ID: 177765 Accession: VCV000177765.5

Type and length

Deletion, 9 bp

Location

Cytogenetic: 7p11.2 7: 55174773-55174781 (GRCh38) [ NCBI UCSC ] 7: 55242466-55242474 (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	Jan 31, 2015	Jan 31, 2015	Mar 1, 2008

HGVS

Nucleotide	Protein	Molecular consequence
NM_005228.5:c.2239_2247del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_005219.2:p.Leu747_Glu749del	inframe deletion
NM_001346897.2:c.2104_2112del	NP_001333826.1:p.Leu702_Glu704del	inframe deletion
NM_001346898.2:c.2239_2247del	NP_001333827.1:p.Leu747_Glu749del	inframe deletion
NM_001346899.2:c.2104_2112del	NP_001333828.1:p.Leu702_Glu704del	inframe deletion
NM_001346900.2:c.2080_2088del	NP_001333829.1:p.Leu694_Glu696del	inframe deletion
NM_001346941.2:c.1438_1446del	NP_001333870.1:p.Leu480_Glu482del	inframe deletion
NC_000007.14:g.55174776_55174784del
NC_000007.13:g.55242469_55242477del
NG_007726.3:g.160745_160753del
LRG_304:g.160745_160753del
LRG_304t1:c.2239_2247del

... more HGVS ... less HGVS

Protein change

Other names

Canonical SPDI

NC_000007.14:55174772:GAATTAAGAGAA:GAA

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.

Links

ClinGen: CA180726 Genetic Testing Registry (GTR): GTR000560812 dbSNP: rs121913436 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	3562	4011

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.
Tyrosine kinase inhibitor response	drug response (1)	no assertion criteria provided	Mar 1, 2008	RCV000154382.4

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.
drug response (Mar 01, 2008) C Contributing to aggregate classification	no assertion criteria provided	Tyrosine kinase inhibitor response	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine Accession: SCV000204048.1 First in ClinVar: Jan 31, 2015 Last updated: Jan 31, 2015	Observation: 1 Collection method: clinical testing Allele origin: somatic Affected status: not provided more Observation 1 Collection method: clinical testing Allele origin: somatic Affected status: not provided Number of individuals with the variant: 3

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs121913436 ...

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 24, 2022