1:155261649-155261649 C > T

Classification

Category 3

curation

CMH MAF

177 / 14969 samples (1.18%)
177 het., 0 hom. (100%)
177 / 29938 total alleles (0.591%)

Genes

Consequences
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

Curation

Uncertain Significance