Classification
Category 4
CMH MAF
128 /
9594 samples
(1.33%)
127 het.,
1 hom.
(99.2%)
129 /
19188 total alleles
(0.672%)
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
ClinVar
291802
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = MASP2 deficiency
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% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
43 / 23838 |
0.18% |
| America/Latino |
55 / 34360 |
0.16% |
| Ashkenazi Jewish |
53 / 10086 |
0.525% |
| East Asian |
2 / 18830 |
0.0106% |
| Finnish |
85 / 25108 |
0.339% |
| Non-Finnish |
1111 / 125718 |
0.884% |
| Other |
34 / 6426 |
0.529% |
| South Asian |
228 / 30772 |
0.741% |
| Total MAF |
1611 / 275138 |
0.586% |
Export Variant