1:155261636-155261636 C > T

Classification

Category 1

CMH MAF

24 / 8745 samples (0.274%)
24 het., 0 hom. (100%)
24 / 17490 total alleles (0.137%)

Genes

Consequences
gene: PKLR synonym(s): PK1, PKL, PKR, PKRL, RPK, PKLR, ENSG00000143627

NM_000298.5 [CDS] Reportable
hgvs_c: NM_000298.5:c.1529G>A
reference AA: R
variant AA: Q
reference codon: cGa
variant codon: cAa
cDNA pos: 1568
CDS pos: 1529
translation impact: non_synonymous
protein sequence: NP_000289.1
AA pos: 510
hgvs_p: NP_000289.1:p.Arg510Gln
blosum: 1
SIFT: deleterious (0.01)
PolyPhen2: probably_damaging (1.0)

NM_181871.3 [CDS]
hgvs_c: NM_181871.3:c.1436G>A
reference AA: R
variant AA: Q
reference codon: cGa
variant codon: cAa
cDNA pos: 1550
CDS pos: 1436
translation impact: non_synonymous
protein sequence: NP_870986.1
AA pos: 479
hgvs_p: NP_870986.1:p.Arg479Gln
blosum: 1
SIFT: deleterious (0.01)
PolyPhen2: probably_damaging (0.998)

dbSNP

rs113403872
GMAF = 0.0001997
TOPMED_MAF = 0.00054153924566768

ClinVar

clinvar_disease = Pyruvate kinase deficiency of red cells
1511
clinvar_significance = Pathogenic
clinvar_submission_scv = SCV000280891.1

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000930,0.000227,0.000692

ExAC

ExAC
Ethnicity Count / Number MAF
African 2 / 10398 0.0192%
America/Latino 0 / 11572 0%
East Asian 0 / 8650 0%
Finnish 0 / 6614 0%
Non-Finnish 47 / 66708 0.0705%
Other 0 / 908 0%
South Asian 0 / 16510 0%
Total MAF 49 / 121360 0.0404%

COSMIC

COSMIC Mutation ID = COSM675770
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = false

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 7 / 24022 0.0291%
America/Latino 1 / 34420 0.00291%
Ashkenazi Jewish 0 / 10152 0%
East Asian 0 / 18868 0%
Finnish 1 / 25788 0.00388%
Non-Finnish 92 / 126696 0.0726%
Other 3 / 6466 0.0464%
South Asian 0 / 30782 0%
Total MAF 104 / 277194 0.0375%


Export Variant

Curation

Pathogenic