1:8616562-8616562 C > T

Classification

Category 4

curation

CMH MAF

19 / 13144 samples (0.145%)
19 het., 0 hom. (100%)
19 / 26288 total alleles (0.0723%)

Genes

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

NM_001042681.1 [CDS]
hgvs_c: NM_001042681.1:c.697G>A
reference AA: V
variant AA: I
reference codon: Gtt
variant codon: Att
cDNA pos: 1322
CDS pos: 697
translation impact: non_synonymous
protein sequence: NP_001036146.1
AA pos: 233
hgvs_p: NP_001036146.1:p.Val233Ile
blosum: 3
PolyPhen2: possibly_damaging (0.766)

NM_012102.3 [CDS] Reportable
hgvs_c: NM_012102.3:c.697G>A
reference AA: V
variant AA: I
reference codon: Gtt
variant codon: Att
cDNA pos: 1507
CDS pos: 697
translation impact: non_synonymous
protein sequence: NP_036234.3
AA pos: 233
hgvs_p: NP_036234.3:p.Val233Ile
blosum: 3
PolyPhen2: possibly_damaging (0.766)

dbSNP

rs147116390
TOPMED_MAF = 0.00062914118246687

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.001047,0.000000,0.000692

ExAC

ExAC
Ethnicity Count / Number MAF
African 0 / 10394 0%
America/Latino 7 / 11576 0.0605%
East Asian 4 / 8652 0.0462%
Finnish 0 / 6614 0%
Non-Finnish 57 / 66696 0.0855%
Other 0 / 908 0%
South Asian 0 / 16510 0%
Total MAF 68 / 121350 0.056%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 3 / 24958 0.012%
America/Latino 24 / 35438 0.0677%
Ashkenazi Jewish 0 / 10368 0%
East Asian 5 / 19954 0.0251%
Finnish 1 / 25110 0.00398%
Non-Finnish 100 / 129136 0.0774%
Other 3 / 7220 0.0416%
South Asian 0 / 30616 0%
Korean 0 / 3818 0%
Japanese 0 / 152 0%
Other East Asian 5 / 14424 0.0347%
Bulgarian 1 / 2670 0.0375%
Estonian 0 / 4830 0%
North-Western European 34 / 50786 0.0669%
Southern European 34 / 11606 0.293%
Swedish 8 / 26134 0.0306%
Other non-Finnish European 23 / 33110 0.0695%
Total MAF 136 / 282800 0.0481%

curated_classification = 4

Export Variant

Curation

Likely Benign