Classification
Category 4
non_synonymous
CMH MAF
12 /
6955 samples
(0.173%)
12 het.,
0 hom.
(100%)
12 /
13910 total alleles
(0.0863%)
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
clinvar_submission_scv = SCV000511488.1
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 |
1 / 24028 |
0.00416% |
| America/Latino |
5 / 34410 |
0.0145% |
| Ashkenazi Jewish |
0 / 10150 |
0% |
| East Asian |
0 / 18870 |
0% |
| Finnish |
0 / 25794 |
0% |
| Non-Finnish |
53 / 126662 |
0.0418% |
| Other |
0 / 6460 |
0% |
| South Asian |
0 / 30782 |
0% |
| Total MAF |
59 / 277156 |
0.0213% |
Export Variant