Classification
Category 4
curation
CMH MAF
169 /
13144 samples
(1.29%)
168 het.,
1 hom.
(99.4%)
170 /
26288 total alleles
(0.647%)
Genes
gene: MASP2
synonym(s): MAP19, MASP-2, MASP1P1, sMAP, MASP2, ENSG00000009724
NM_006610.3
[CDS]
Reportable
hgvs_c: NM_006610.3:c.467G>A
reference AA: C
variant AA: Y
reference codon: tGc
variant codon: tAc
cDNA pos: 499
CDS pos: 467
translation impact: non_synonymous
protein sequence:
NP_006601.2
AA pos: 156
hgvs_p: NP_006601.2:p.Cys156Tyr
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
NM_139208.2
[CDS]
hgvs_c: NM_139208.2:c.467G>A
reference AA: C
variant AA: Y
reference codon: tGc
variant codon: tAc
cDNA pos: 499
CDS pos: 467
translation impact: non_synonymous
protein sequence:
NP_631947.1
AA pos: 156
hgvs_p: NP_631947.1:p.Cys156Tyr
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
dbSNP
rs41307788
GMAF = 0.003195
TOPMED_MAF = 0.00657810907237512
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.009651,0.003179,0.007459
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
20 / 9846 |
0.203% |
| America/Latino |
10 / 11300 |
0.0885% |
| East Asian |
0 / 8496 |
0% |
| Finnish |
18 / 5964 |
0.302% |
| Non-Finnish |
585 / 64138 |
0.912% |
| Other |
8 / 854 |
0.937% |
| South Asian |
127 / 16358 |
0.776% |
| Total MAF |
768 / 116956 |
0.657% |
COSMIC
COSMIC Mutation ID = COSV99071724
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = false
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
47 / 24692 |
0.19% |
| America/Latino |
59 / 35312 |
0.167% |
| Ashkenazi Jewish |
57 / 10252 |
0.556% |
| East Asian |
2 / 19904 |
0.01% |
| Finnish |
85 / 24430 |
0.348% |
| Non-Finnish |
1134 / 127660 |
0.888% |
| Other |
37 / 7160 |
0.517% |
| South Asian |
225 / 30594 |
0.735% |
| Korean |
0 / 3816 |
0% |
| Japanese |
0 / 138 |
0% |
| Other East Asian |
2 / 14392 |
0.0139% |
| Bulgarian |
11 / 2628 |
0.419% |
| Estonian |
24 / 4808 |
0.499% |
| North-Western European |
499 / 50348 |
0.991% |
| Southern European |
71 / 11514 |
0.617% |
| Swedish |
286 / 25980 |
1.1% |
| Other non-Finnish European |
243 / 32382 |
0.75% |
| Total MAF |
1646 / 280004 |
0.588% |
curated_classification = 4
Export Variant