1:8415618-8415618 G > T

Classification

Category 4

curation

CMH MAF

55 / 13144 samples (0.418%)
55 het., 0 hom. (100%)
55 / 26288 total alleles (0.209%)

Genes

Consequences
gene: RERE synonym(s): ARG, ARP, ATN1L, DNB1, RERE, ENSG00000142599

NM_001042681.1 [CDS]
hgvs_c: NM_001042681.1:c.4528C>A
reference AA: P
variant AA: T
reference codon: Ccc
variant codon: Acc
cDNA pos: 5153
CDS pos: 4528
translation impact: non_synonymous
protein sequence: NP_001036146.1
AA pos: 1510
hgvs_p: NP_001036146.1:p.Pro1510Thr
blosum: -1
PolyPhen2: unknown (0.0)

NM_001042682.1 [CDS]
hgvs_c: NM_001042682.1:c.2866C>A
reference AA: P
variant AA: T
reference codon: Ccc
variant codon: Acc
cDNA pos: 3452
CDS pos: 2866
translation impact: non_synonymous
protein sequence: NP_001036147.1
AA pos: 956
hgvs_p: NP_001036147.1:p.Pro956Thr
blosum: -1
SIFT: deleterious_low_confidence (0.04)
PolyPhen2: unknown (0.0)

NM_012102.3 [CDS] Reportable
hgvs_c: NM_012102.3:c.4528C>A
reference AA: P
variant AA: T
reference codon: Ccc
variant codon: Acc
cDNA pos: 5338
CDS pos: 4528
translation impact: non_synonymous
protein sequence: NP_036234.3
AA pos: 1510
hgvs_p: NP_036234.3:p.Pro1510Thr
blosum: -1
PolyPhen2: unknown (0.0)

dbSNP

rs115891071
GMAF = 0.004593
TOPMED_MAF = 0.00549503058103975

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000466,0.014545,0.005236

ExAC

ExAC
Ethnicity Count / Number MAF
African 144 / 8082 1.78%
America/Latino 22 / 10748 0.205%
East Asian 0 / 8060 0%
Finnish 2 / 5446 0.0367%
Non-Finnish 26 / 58792 0.0442%
Other 5 / 744 0.672%
South Asian 0 / 13352 0%
Total MAF 199 / 105224 0.189%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 358 / 23320 1.54%
America/Latino 108 / 34706 0.311%
Ashkenazi Jewish 8 / 9658 0.0828%
East Asian 0 / 19606 0%
Finnish 0 / 23802 0%
Non-Finnish 53 / 117708 0.045%
Other 14 / 6808 0.206%
South Asian 0 / 29830 0%
Korean 0 / 3812 0%
Japanese 0 / 102 0%
Other East Asian 0 / 14132 0%
Bulgarian 2 / 2450 0.0816%
Estonian 0 / 4754 0%
North-Western European 18 / 44238 0.0407%
Southern European 16 / 11026 0.145%
Swedish 1 / 25766 0.00388%
Other non-Finnish European 16 / 29474 0.0543%
Total MAF 541 / 265438 0.204%

curated_classification = 4

Export Variant

Curation

Likely Benign