NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 1, 2008)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000038395.2

Allele description [Variation Report for NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)]

NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)

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.2248G>C (p.Ala750Pro)
HGVS:
  • NC_000007.14:g.55174785G>C
  • NG_007726.3:g.160754G>C
  • NM_001346897.2:c.2113G>C
  • NM_001346898.2:c.2248G>C
  • NM_001346899.1:c.2113G>C
  • NM_001346900.2:c.2089G>C
  • NM_001346941.2:c.1447G>C
  • NM_005228.5:c.2248G>CMANE SELECT
  • NP_001333826.1:p.Ala705Pro
  • NP_001333827.1:p.Ala750Pro
  • NP_001333828.1:p.Ala705Pro
  • NP_001333829.1:p.Ala697Pro
  • NP_001333870.1:p.Ala483Pro
  • NP_005219.2:p.Ala750Pro
  • LRG_304t1:c.2248G>C
  • LRG_304:g.160754G>C
  • NC_000007.13:g.55242478G>C
  • NM_005228.3:c.2248G>C
  • c.2248G>C
Protein change:
A483P
Links:
dbSNP: rs121913229
NCBI 1000 Genomes Browser:
rs121913229
Molecular consequence:
  • NM_001346897.2:c.2113G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.2248G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.1:c.2113G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.2089G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346941.2:c.1447G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.2248G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000062067Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicineno assertion criteria providedUncertain significance
(Mar 1, 2008)
somaticclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided44not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000062067.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided4not provided4not provided

Last Updated: Jul 7, 2021

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