NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jun 17, 2013)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

Help

Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000038443.5

Allele description [Variation Report for NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg)]

NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg)

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.2582T>G (p.Leu861Arg)

HGVS:

NC_000007.14:g.55191831T>G
NG_007726.3:g.177800T>G
NM_001346897.2:c.2447T>G
NM_001346898.2:c.2582T>G
NM_001346899.2:c.2447T>G
NM_001346900.2:c.2423T>G
NM_001346941.2:c.1781T>G
NM_005228.5:c.2582T>GMANE SELECT
NP_001333826.1:p.Leu816Arg
NP_001333827.1:p.Leu861Arg
NP_001333828.1:p.Leu816Arg
NP_001333829.1:p.Leu808Arg
NP_001333870.1:p.Leu594Arg
NP_005219.2:p.Leu861Arg
LRG_304t1:c.2582T>G
LRG_304:g.177800T>G
NC_000007.13:g.55259524T>G
NM_005228.3:c.2582T>G
c.2582T>G

Protein change:

L594R

Links:

dbSNP: rs121913444

NCBI 1000 Genomes Browser:

rs121913444

Molecular consequence:

NM_001346897.2:c.2447T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346898.2:c.2582T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346899.2:c.2447T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346900.2:c.2423T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346941.2:c.1781T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005228.5:c.2582T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000062115	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter LMM Criteria	Uncertain significance (Jun 17, 2013)	somatic	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16931592, 18509184, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000062115

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

LMM Criteria

Uncertain significance
(Jun 17, 2013)

somatic

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	2	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

Rapid and simple detection of hot spot point mutations of epidermal growth factor receptor, BRAF, and NRAS in cancers using the loop-hybrid mobility shift assay.

Matsukuma S, Yoshihara M, Kasai F, Kato A, Yoshida A, Akaike M, Kobayashi O, Nakayama H, Sakuma Y, Yoshida T, Kameda Y, Tsuchiya E, Miyagi Y.

J Mol Diagn. 2006 Sep;8(4):504-12.

PubMed [citation]

PMID:: 16931592
PMCID:: PMC1867624

Specific EGFR mutations predict treatment outcome of stage IIIB/IV patients with chemotherapy-naive non-small-cell lung cancer receiving first-line gefitinib monotherapy.

Yang CH, Yu CJ, Shih JY, Chang YC, Hu FC, Tsai MC, Chen KY, Lin ZZ, Huang CJ, Shun CT, Huang CL, Bean J, Cheng AL, Pao W, Yang PC.

J Clin Oncol. 2008 Jun 1;26(16):2745-53. doi: 10.1200/JCO.2007.15.6695.

PubMed [citation]

PMID:: 18509184

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000062115.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (3)

Description

The 2582T>G (L861R) variant has been previously identified in a NSCLC tumor and one patient with this variant was reported to have stable disease after treatment with Gefitinib (Yang 2008). However, this single case is not sufficient evidence to predict the likelihood of responsiveness in this individual. Additional information is needed to clarify the clinical significance of this variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	not provided	not provided	not provided		2	not provided	2	not provided

Last Updated: Dec 24, 2022

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