Classification
Category 4
curation
CMH MAF
15 /
13144 samples
(0.114%)
15 het.,
0 hom.
(100%)
15 /
26288 total alleles
(0.0571%)
Genes
gene: RERE
synonym(s): ARG, ARP, ATN1L, DNB1, RERE, ENSG00000142599
NM_001042681.1
[CDS]
hgvs_c: NM_001042681.1:c.1964C>T
reference AA: A
variant AA: V
reference codon: gCc
variant codon: gTc
cDNA pos: 2589
CDS pos: 1964
translation impact: non_synonymous
protein sequence:
NP_001036146.1
AA pos: 655
hgvs_p: NP_001036146.1:p.Ala655Val
blosum: 0
PolyPhen2: benign (0.264)
NM_001042682.1
[CDS]
hgvs_c: NM_001042682.1:c.302C>T
reference AA: A
variant AA: V
reference codon: gCc
variant codon: gTc
cDNA pos: 888
CDS pos: 302
translation impact: non_synonymous
protein sequence:
NP_001036147.1
AA pos: 101
hgvs_p: NP_001036147.1:p.Ala101Val
blosum: 0
SIFT: tolerated_low_confidence (0.2)
PolyPhen2: benign (0.264)
NM_012102.3
[CDS]
Reportable
hgvs_c: NM_012102.3:c.1964C>T
reference AA: A
variant AA: V
reference codon: gCc
variant codon: gTc
cDNA pos: 2774
CDS pos: 1964
translation impact: non_synonymous
protein sequence:
NP_036234.3
AA pos: 655
hgvs_p: NP_036234.3:p.Ala655Val
blosum: 0
PolyPhen2: benign (0.264)
dbSNP
rs149900041
GMAF = 0.0001997
TOPMED_MAF = 0.00020705912334352
ClinVar
377206
clinvar_significance = Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000349,0.000000,0.000231
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 10400 |
0.00962% |
| America/Latino |
1 / 11576 |
0.00864% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
36 / 66710 |
0.054% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16502 |
0% |
| Total MAF |
38 / 121364 |
0.0313% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 24966 |
0.00801% |
| America/Latino |
6 / 35414 |
0.0169% |
| Ashkenazi Jewish |
0 / 10366 |
0% |
| East Asian |
0 / 19954 |
0% |
| Finnish |
0 / 25122 |
0% |
| Non-Finnish |
53 / 129146 |
0.041% |
| Other |
0 / 7226 |
0% |
| South Asian |
0 / 30616 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
2 / 2670 |
0.0749% |
| Estonian |
2 / 4834 |
0.0414% |
| North-Western European |
12 / 50772 |
0.0236% |
| Southern European |
4 / 11610 |
0.0345% |
| Swedish |
20 / 26134 |
0.0765% |
| Other non-Finnish European |
13 / 33126 |
0.0392% |
| Total MAF |
61 / 282810 |
0.0216% |
curated_classification = 4
Export Variant