1:8421875-8421875 G > A

Classification

Category 4

curation

CMH MAF

15 / 13144 samples (0.114%)
15 het., 0 hom. (100%)
15 / 26288 total alleles (0.0571%)

Genes

Consequences
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

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 2 / 24966 0.00801%
America/Latino 6 / 35414 0.0169%
Ashkenazi Jewish 0 / 10366 0%
East Asian 0 / 19954 0%
Finnish 0 / 25122 0%
Non-Finnish 53 / 129146 0.041%
Other 0 / 7226 0%
South Asian 0 / 30616 0%
Korean 0 / 3818 0%
Japanese 0 / 152 0%
Other East Asian 0 / 14424 0%
Bulgarian 2 / 2670 0.0749%
Estonian 2 / 4834 0.0414%
North-Western European 12 / 50772 0.0236%
Southern European 4 / 11610 0.0345%
Swedish 20 / 26134 0.0765%
Other non-Finnish European 13 / 33126 0.0392%
Total MAF 61 / 282810 0.0216%

curated_classification = 4

Export Variant

Curation

Likely Benign