1:8568666-8568666 G > A

Classification

Category 4

curation

CMH MAF

90 / 11950 samples (0.753%)
89 het., 1 hom. (98.9%)
91 / 23900 total alleles (0.381%)

Genes

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

NM_001042681.1 [intron]
hgvs_c: NM_001042681.1:c.879+20C>T
splice impact: five_prime_intronic
protein sequence: NP_001036146.1

NM_012102.3 [intron] Reportable
hgvs_c: NM_012102.3:c.879+20C>T
protein sequence: NP_036234.3

dbSNP

rs77037803
GMAF = 0.009784
TOPMED_MAF = 0.00843367737003058

ClinVar

445602
clinvar_significance = Likely_benign

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000349,0.032683,0.011302

ExAC

ExAC
Ethnicity Count / Number MAF
African 323 / 10324 3.13%
America/Latino 14 / 11524 0.121%
East Asian 0 / 8620 0%
Finnish 0 / 6608 0%
Non-Finnish 6 / 66474 0.00903%
Other 1 / 902 0.111%
South Asian 1 / 16458 0.00608%
Total MAF 345 / 120910 0.285%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 778 / 24926 3.12%
America/Latino 69 / 35254 0.196%
Ashkenazi Jewish 0 / 10342 0%
East Asian 0 / 19890 0%
Finnish 0 / 25092 0%
Non-Finnish 14 / 128740 0.0109%
Other 8 / 7202 0.111%
South Asian 1 / 30342 0.0033%
Korean 0 / 3818 0%
Japanese 0 / 152 0%
Other East Asian 0 / 14362 0%
Bulgarian 2 / 2668 0.075%
Estonian 0 / 4826 0%
North-Western European 4 / 50550 0.00791%
Southern European 2 / 11588 0.0173%
Swedish 0 / 26126 0%
Other non-Finnish European 6 / 32982 0.0182%
Total MAF 870 / 281788 0.309%

curated_classification = 4

Export Variant

Curation

Likely Benign