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NM_005228.5(EGFR):c.2577del (p.Lys860fs) AND EGFR-related lung cancer

Clinical significance:Pathogenic (Last evaluated: Oct 5, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001348004.2

Allele description [Variation Report for NM_005228.5(EGFR):c.2577del (p.Lys860fs)]

NM_005228.5(EGFR):c.2577del (p.Lys860fs)

Gene:
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
NM_005228.5(EGFR):c.2577del (p.Lys860fs)
HGVS:
  • NC_000007.14:g.55191826del
  • NG_007726.3:g.177795del
  • NM_001346897.2:c.2442del
  • NM_001346898.2:c.2577del
  • NM_001346899.2:c.2442del
  • NM_001346900.2:c.2418del
  • NM_001346941.2:c.1776del
  • NM_005228.5:c.2577delMANE SELECT
  • NP_001333826.1:p.Lys815fs
  • NP_001333827.1:p.Lys860fs
  • NP_001333828.1:p.Lys815fs
  • NP_001333829.1:p.Lys807fs
  • NP_001333870.1:p.Lys593fs
  • NP_005219.2:p.Lys860fs
  • LRG_304:g.177795del
  • NC_000007.13:g.55259518del
  • NC_000007.13:g.55259519del
Protein change:
K593fs
Links:
dbSNP: rs1787409872
NCBI 1000 Genomes Browser:
rs1787409872
Molecular consequence:
  • NM_001346897.2:c.2442del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001346898.2:c.2577del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001346899.2:c.2442del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001346900.2:c.2418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001346941.2:c.1776del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005228.5:c.2577del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
EGFR-related lung cancer (EGFR)
Identifiers:
MedGen: CN130014

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001542289Invitaecriteria provided, single submitter
Pathogenic
(Oct 5, 2021)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Epithelial immaturity and multiorgan failure in mice lacking epidermal growth factor receptor.

Miettinen PJ, Berger JE, Meneses J, Phung Y, Pedersen RA, Werb Z, Derynck R.

Nature. 1995 Jul 27;376(6538):337-41.

PubMed [citation]
PMID:
7630400

Genomic diagnostics within a medically underserved population: efficacy and implications.

Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG.

Genet Med. 2018 Jan;20(1):31-41. doi: 10.1038/gim.2017.76. Epub 2017 Jul 20.

PubMed [citation]
PMID:
28726809
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001542289.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Lys860Asnfs*43) in the EGFR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EGFR are known to be pathogenic (PMID: 7630400, 28726809, 29899996). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1043841). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 24, 2022