1:120491644-120491644 G > A

Classification

Category 5

non_synonymous

CMH MAF

9 / 6955 samples (0.129%)
9 het., 0 hom. (100%)
9 / 13910 total alleles (0.0647%)

Genes

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

NM_001200001.1 [CDS]
hgvs_c: NM_001200001.1:c.2585C>T
reference AA: A
variant AA: V
reference codon: gCt
variant codon: gTt
cDNA pos: 2882
CDS pos: 2585
translation impact: non_synonymous
protein sequence: NP_001186930.1
AA pos: 862
hgvs_p: NP_001186930.1:p.Ala862Val
blosum: 0
PolyPhen2: possibly_damaging (0.61)

NM_024408.3 [CDS] Reportable
hgvs_c: NM_024408.3:c.2585C>T
reference AA: A
variant AA: V
reference codon: gCt
variant codon: gTt
cDNA pos: 2882
CDS pos: 2585
translation impact: non_synonymous
protein sequence: NP_077719.2
AA pos: 862
hgvs_p: NP_077719.2:p.Ala862Val
blosum: 0
SIFT: deleterious (0.02)
PolyPhen2: possibly_damaging (0.559)

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

TRNAN-GUU [intron] Reportable

dbSNP

rs35656321
GMAF = 0.001398
TOPMED_MAF = 0.00278733435270132

ClinVar

134963
clinvar_significance = Benign

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000116,0.008171,0.002845

ExAC

ExAC
Ethnicity Count / Number MAF
African 85 / 10406 0.817%
America/Latino 9 / 11578 0.0777%
East Asian 0 / 8654 0%
Finnish 0 / 6614 0%
Non-Finnish 1 / 66740 0.0015%
Other 0 / 908 0%
South Asian 1 / 16510 0.00606%
Total MAF 96 / 121410 0.0791%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 198 / 24034 0.824%
America/Latino 21 / 34418 0.061%
Ashkenazi Jewish 0 / 10150 0%
East Asian 0 / 18870 0%
Finnish 0 / 25792 0%
Non-Finnish 1 / 126584 0.00079%
Other 1 / 6466 0.0155%
South Asian 2 / 30782 0.0065%
Total MAF 223 / 277096 0.0805%


Export Variant

Curation

Benign