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NM_000222.3(KIT):c.2597-51T>C AND Squamous cell lung carcinoma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 5, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001250971.2

Allele description [Variation Report for NM_000222.3(KIT):c.2597-51T>C]

NM_000222.3(KIT):c.2597-51T>C

Gene:
KIT:KIT proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000222.3(KIT):c.2597-51T>C
HGVS:
  • NC_000004.12:g.54736670T>C
  • NG_007456.1:g.83676T>C
  • NM_000222.3:c.2597-51T>CMANE SELECT
  • NM_001093772.2:c.2585-51T>C
  • NM_001385284.1:c.2600-51T>C
  • NM_001385285.1:c.2594-51T>C
  • NM_001385286.1:c.2582-51T>C
  • NM_001385288.1:c.2588-51T>C
  • NM_001385290.1:c.2597-51T>C
  • NM_001385292.1:c.2585-51T>C
  • LRG_307:g.83676T>C
  • NC_000004.11:g.55602836T>C
Links:
dbSNP: rs368272654
NCBI 1000 Genomes Browser:
rs368272654
Molecular consequence:
  • NM_000222.3:c.2597-51T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001093772.2:c.2585-51T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385284.1:c.2600-51T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385285.1:c.2594-51T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385286.1:c.2582-51T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385288.1:c.2588-51T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385290.1:c.2597-51T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385292.1:c.2585-51T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Squamous cell lung carcinoma
Synonyms:
Lung cancer, squamous cell, somatic; Squamous cell carcinoma of lung
Identifiers:
MONDO: MONDO:0005097; MedGen: C0149782; Human Phenotype Ontology: HP:0030359

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001250954Faculté Pluridciplinaire Nador, Université Mohamed Premier
no assertion criteria provided
Uncertain significance
(May 5, 2020) 		somaticclinical testing, in vivo

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedin vivo, clinical testing

Details of each submission

From Faculté Pluridciplinaire Nador, Université Mohamed Premier, SCV001250954.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not providednot providednot providednot providedin vivonot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided
2somaticyesnot providedLiver metastasis Tumornot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024