Classification

Category 5

non_synonymous

CMH MAF

4576 / 6955 samples (65.8%)
4565 het., 11 hom. (99.8%)
4587 / 13910 total alleles (33%)

Genes

gene: NOTCH2 synonym(s): AGS2, HJCYS, hN2, NOTCH2, ENSG00000134250

NM_001200001.1 [CDS]
hgvs_c: NM_001200001.1:c.112G>A
reference AA: E
variant AA: K
reference codon: Gaa
variant codon: Aaa
cDNA pos: 409
CDS pos: 112
translation impact: non_synonymous
protein sequence: NP_001186930.1
AA pos: 38
hgvs_p: NP_001186930.1:p.Glu38Lys
blosum: 1
PolyPhen2: benign (0.099)

NM_024408.3 [CDS] Reportable
hgvs_c: NM_024408.3:c.112G>A
reference AA: E
variant AA: K
reference codon: Gaa
variant codon: Aaa
cDNA pos: 409
CDS pos: 112
translation impact: non_synonymous
protein sequence: NP_077719.2
AA pos: 38
hgvs_p: NP_077719.2:p.Glu38Lys
blosum: 1
SIFT: tolerated (0.05)
PolyPhen2: benign (0.028)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron] Reportable

dbSNP

rs61788901

COSMIC

COSMIC Mutation ID = COSM1736165
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true

Export Variant

Curation

Benign