NM_005228.5(EGFR):c.2495G>A (p.Arg832His) AND EGFR-related lung cancer

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 14, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001372930.7

Allele description [Variation Report for NM_005228.5(EGFR):c.2495G>A (p.Arg832His)]

NM_005228.5(EGFR):c.2495G>A (p.Arg832His)

Gene:

EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

Preferred name:

NM_005228.5(EGFR):c.2495G>A (p.Arg832His)

HGVS:

NC_000007.14:g.55191744G>A
NG_007726.3:g.177713G>A
NM_001346897.2:c.2360G>A
NM_001346898.2:c.2495G>A
NM_001346899.2:c.2360G>A
NM_001346900.2:c.2336G>A
NM_001346941.2:c.1694G>A
NM_005228.5:c.2495G>AMANE SELECT
NP_001333826.1:p.Arg787His
NP_001333827.1:p.Arg832His
NP_001333828.1:p.Arg787His
NP_001333829.1:p.Arg779His
NP_001333870.1:p.Arg565His
NP_005219.2:p.Arg832His
LRG_304:g.177713G>A
NC_000007.13:g.55259437G>A

Protein change:

R565H

Links:

dbSNP: rs772091823

NCBI 1000 Genomes Browser:

rs772091823

Molecular consequence:

NM_001346897.2:c.2360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346898.2:c.2495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346899.2:c.2360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346900.2:c.2336G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346941.2:c.1694G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005228.5:c.2495G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001569625	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 14, 2020)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25382819, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001569625

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 14, 2020)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

ProKinO: a unified resource for mining the cancer kinome.

McSkimming DI, Dastgheib S, Talevich E, Narayanan A, Katiyar S, Taylor SS, Kochut K, Kannan N.

Hum Mutat. 2015 Feb;36(2):175-86. doi: 10.1002/humu.22726.

PubMed [citation]

PMID:: 25382819
PMCID:: PMC4342772

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001569625.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this variant does not substantially affect EGFR protein function (PMID: 25382819). This variant has not been reported in the literature in individuals with EGFR-related conditions. This variant is present in population databases (rs772091823, ExAC 0.006%). This sequence change replaces arginine with histidine at codon 832 of the EGFR protein (p.Arg832His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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