Classification
Category 4
curation
CMH MAF
251 /
13144 samples
(1.91%)
249 het.,
2 hom.
(99.2%)
253 /
26288 total alleles
(0.962%)
Genes
gene: RD3
synonym(s): C1orf36, LCA12, RD3, ENSG00000198570
NM_001164688.1
[CDS]
hgvs_c: NM_001164688.1:c.584A>T
reference AA: D
variant AA: V
reference codon: gAc
variant codon: gTc
cDNA pos: 1745
CDS pos: 584
translation impact: non_synonymous
protein sequence:
NP_001158160.1
AA pos: 195
hgvs_p: NP_001158160.1:p.Asp195Val
blosum: -3
SIFT: deleterious_low_confidence (0.0)
PolyPhen2: possibly_damaging (0.696)
NM_183059.2
[CDS]
Reportable
hgvs_c: NM_183059.2:c.584A>T
reference AA: D
variant AA: V
reference codon: gAc
variant codon: gTc
cDNA pos: 1748
CDS pos: 584
translation impact: non_synonymous
protein sequence:
NP_898882.1
AA pos: 195
hgvs_p: NP_898882.1:p.Asp195Val
blosum: -3
SIFT: deleterious_low_confidence (0.0)
PolyPhen2: possibly_damaging (0.696)
dbSNP
rs143207434
GMAF = 0.002796
TOPMED_MAF = 0.00873630224260958
ClinVar
445480
clinvar_significance = Benign_Likely_benign
clinvar_disease = Leber congenital amaurosis 12
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.012445,0.000909,0.008540
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
15 / 7312 |
0.205% |
| America/Latino |
41 / 9234 |
0.444% |
| East Asian |
0 / 7234 |
0% |
| Finnish |
138 / 3872 |
3.56% |
| Non-Finnish |
801 / 53340 |
1.5% |
| Other |
7 / 646 |
1.08% |
| South Asian |
7 / 12778 |
0.0548% |
| Total MAF |
1009 / 94416 |
1.07% |
COSMIC
COSMIC Mutation ID = COSV65362588
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = false
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
40 / 23818 |
0.168% |
| America/Latino |
175 / 34976 |
0.5% |
| Ashkenazi Jewish |
33 / 10086 |
0.327% |
| East Asian |
0 / 19610 |
0% |
| Finnish |
516 / 18354 |
2.81% |
| Non-Finnish |
1703 / 123460 |
1.38% |
| Other |
68 / 6898 |
0.986% |
| South Asian |
14 / 30136 |
0.0465% |
| Korean |
0 / 3812 |
0% |
| Japanese |
0 / 62 |
0% |
| Other East Asian |
0 / 14180 |
0% |
| Bulgarian |
43 / 2406 |
1.79% |
| Estonian |
188 / 4798 |
3.92% |
| North-Western European |
545 / 48702 |
1.12% |
| Southern European |
87 / 11142 |
0.781% |
| Swedish |
359 / 25484 |
1.41% |
| Other non-Finnish European |
481 / 30928 |
1.56% |
| Total MAF |
2549 / 267338 |
0.953% |
curated_classification = 4
Export Variant