1:11105542-11105542 C > T

Classification

Category 4

curation

CMH MAF

169 / 13144 samples (1.29%)
168 het., 1 hom. (99.4%)
170 / 26288 total alleles (0.647%)

Genes

Consequences
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

Curation

Likely Benign