Classification
Category 3
curation
CMH MAF
87 /
13105 samples
(0.664%)
86 het.,
1 hom.
(98.9%)
88 /
26210 total alleles
(0.336%)
Genes
gene: GREM2
synonym(s): CKTSF1B2, DAND3, PRDC, GREM2, ENSG00000180875
NM_022469.3
[CDS]
Reportable
hgvs_c: NM_022469.3:c.226C>G
reference AA: Q
variant AA: E
reference codon: Cag
variant codon: Gag
cDNA pos: 506
CDS pos: 226
translation impact: non_synonymous
protein sequence:
NP_071914.3
AA pos: 76
hgvs_p: NP_071914.3:p.Gln76Glu
blosum: 2
SIFT: tolerated (0.11)
PolyPhen2: possibly_damaging (0.449)
dbSNP
rs142343894
GMAF = 0.000599
TOPMED_MAF = 0.00187945973496432
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.003140,0.000908,0.002384
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
7 / 10266 |
0.0682% |
| America/Latino |
15 / 11548 |
0.13% |
| East Asian |
0 / 8608 |
0% |
| Finnish |
7 / 6600 |
0.106% |
| Non-Finnish |
142 / 66122 |
0.215% |
| Other |
2 / 898 |
0.223% |
| South Asian |
29 / 16490 |
0.176% |
| Total MAF |
202 / 120532 |
0.168% |
COSMIC
COSMIC Mutation ID = COSV58956078
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
20 / 24906 |
0.0803% |
| America/Latino |
39 / 35422 |
0.11% |
| Ashkenazi Jewish |
0 / 10356 |
0% |
| East Asian |
0 / 19882 |
0% |
| Finnish |
11 / 25094 |
0.0438% |
| Non-Finnish |
341 / 128468 |
0.265% |
| Other |
16 / 7220 |
0.222% |
| South Asian |
54 / 30602 |
0.176% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 146 |
0% |
| Other East Asian |
0 / 14358 |
0% |
| Bulgarian |
16 / 2668 |
0.6% |
| Estonian |
10 / 4814 |
0.208% |
| North-Western European |
154 / 50308 |
0.306% |
| Southern European |
26 / 11590 |
0.224% |
| Swedish |
40 / 26116 |
0.153% |
| Other non-Finnish European |
95 / 32972 |
0.288% |
| Total MAF |
481 / 281950 |
0.171% |
curated_classification = 3
Export Variant