1:8716321-8716322 - > TCTTTG

Classification

Category 4

curation

CMH MAF

20 / 13144 samples (0.152%)
20 het., 0 hom. (100%)
20 / 26288 total alleles (0.0761%)

Genes

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

NM_001042681.1 [CDS]
hgvs_c: NM_001042681.1:c.30_35dupCAAAGA
reference AA: E
variant AA: DKE
reference codon: gag
variant codon: gaCAAAGAg
cDNA pos: 660
CDS pos: 35
translation impact: in_frame_indel
protein sequence: NP_001036146.1
AA pos: 12
hgvs_p: NP_001036146.1:p.Asp10_Lys11dup
blosum: 2

NM_012102.3 [CDS] Reportable
hgvs_c: NM_012102.3:c.30_35dupCAAAGA
reference AA: E
variant AA: DKE
reference codon: gag
variant codon: gaCAAAGAg
cDNA pos: 845
CDS pos: 35
translation impact: in_frame_indel
protein sequence: NP_036234.3
AA pos: 12
hgvs_p: NP_036234.3:p.Asp10_Lys11dup
blosum: 2

dbSNP

rs751268683
TOPMED_MAF = 0.00128217380224260
rs764357464
rs368488556

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 73 / 24546 0.297%
America/Latino 6 / 35162 0.0171%
Ashkenazi Jewish 0 / 10320 0%
East Asian 3 / 19908 0.0151%
Finnish 1 / 24976 0.004%
Non-Finnish 68 / 128264 0.053%
Other 1 / 7148 0.014%
South Asian 14 / 30540 0.0458%
Korean 1 / 3818 0.0262%
Japanese 0 / 150 0%
Other East Asian 1 / 14380 0.00695%
Bulgarian 0 / 2646 0%
Estonian 0 / 4822 0%
North-Western European 29 / 50384 0.0576%
Southern European 8 / 11562 0.0692%
Swedish 16 / 26060 0.0614%
Other non-Finnish European 15 / 32790 0.0457%
Total MAF 166 / 280864 0.0591%

curated_classification = 4

Export Variant

Curation

Likely Benign