Classification
Category 5
non_synonymous
CMH MAF
9 /
6955 samples
(0.129%)
9 het.,
0 hom.
(100%)
9 /
13910 total alleles
(0.0647%)
Genes
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