Classification
Category 3
curation
CMH MAF
177 /
14969 samples
(1.18%)
177 het.,
0 hom.
(100%)
177 /
29938 total alleles
(0.591%)
Genes
gene: PKLR
synonym(s): PK1, PKL, PKR, PKRL, RPK, PKLR, ENSG00000143627
NM_000298.5
[CDS]
Reportable
hgvs_c: NM_000298.5:c.1516G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 1555
CDS pos: 1516
translation impact: non_synonymous
protein sequence:
NP_000289.1
AA pos: 506
hgvs_p: NP_000289.1:p.Val506Ile
blosum: 3
SIFT: tolerated (0.25)
PolyPhen2: benign (0.003)
NM_181871.3
[CDS]
hgvs_c: NM_181871.3:c.1423G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 1537
CDS pos: 1423
translation impact: non_synonymous
protein sequence:
NP_870986.1
AA pos: 475
hgvs_p: NP_870986.1:p.Val475Ile
blosum: 3
SIFT: tolerated (0.21)
PolyPhen2: benign (0.004)
dbSNP
rs8177988
GMAF = 0.002196
TOPMED_MAF = 0.00410136340468909
ClinVar
235407
clinvar_significance = Uncertain_significance
clinvar_disease = Pyruvate kinase deficiency of red cells
clinvar_disease = Adenosine triphosphate
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.005116,0.001589,0.003921
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
16 / 10394 |
0.154% |
| America/Latino |
18 / 11568 |
0.156% |
| East Asian |
0 / 8648 |
0% |
| Finnish |
11 / 6612 |
0.166% |
| Non-Finnish |
342 / 66680 |
0.513% |
| Other |
5 / 906 |
0.552% |
| South Asian |
117 / 16512 |
0.709% |
| Total MAF |
509 / 121320 |
0.42% |
COSMIC
COSMIC Mutation ID = COSV99048047
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = false
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
29 / 24966 |
0.116% |
| America/Latino |
93 / 35436 |
0.262% |
| Ashkenazi Jewish |
21 / 10368 |
0.203% |
| East Asian |
0 / 19954 |
0% |
| Finnish |
31 / 25120 |
0.123% |
| Non-Finnish |
769 / 129180 |
0.595% |
| Other |
37 / 7224 |
0.512% |
| South Asian |
221 / 30616 |
0.722% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
26 / 2670 |
0.974% |
| Estonian |
15 / 4828 |
0.311% |
| North-Western European |
350 / 50810 |
0.689% |
| Southern European |
91 / 11610 |
0.784% |
| Swedish |
99 / 26134 |
0.379% |
| Other non-Finnish European |
188 / 33128 |
0.567% |
| Total MAF |
1201 / 282864 |
0.425% |
curated_classification = 3
Export Variant