1:27120874-27120874 A > G

Classification

Category 3

non_synonymous

CMH MAF

36 / 13144 samples (0.274%)
36 het., 0 hom. (100%)
36 / 26288 total alleles (0.137%)

Genes

Consequences
gene: PIGV synonym(s): GPI-MT-II, HPMRS1, PIG-V, PIGV, ENSG00000060642

NM_001202554.1 [CDS]
hgvs_c: NM_001202554.1:c.349A>G
reference AA: I
variant AA: V
reference codon: Att
variant codon: Gtt
cDNA pos: 1038
CDS pos: 349
translation impact: non_synonymous
protein sequence: NP_001189483.1
AA pos: 117
hgvs_p: NP_001189483.1:p.Ile117Val
blosum: 3
SIFT: tolerated (0.2)
PolyPhen2: benign (0.026)

NM_017837.3 [CDS] Reportable
hgvs_c: NM_017837.3:c.349A>G
reference AA: I
variant AA: V
reference codon: Att
variant codon: Gtt
cDNA pos: 712
CDS pos: 349
translation impact: non_synonymous
protein sequence: NP_060307.2
AA pos: 117
hgvs_p: NP_060307.2:p.Ile117Val
blosum: 3
SIFT: tolerated (0.2)
PolyPhen2: benign (0.026)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron] Reportable

dbSNP

rs142192097
GMAF = 0.0007987
TOPMED_MAF = 0.00118660805300713

ClinVar

297116
clinvar_significance = Uncertain_significance
clinvar_disease = Hyperphosphatasia-intellectual disability syndrome

ExAC

ExAC
Ethnicity Count / Number MAF
African 6 / 10406 0.0577%
America/Latino 13 / 11576 0.112%
East Asian 0 / 8654 0%
Finnish 0 / 6612 0%
Non-Finnish 169 / 66732 0.253%
Other 1 / 908 0.11%
South Asian 3 / 16512 0.0182%
Total MAF 192 / 121400 0.158%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 9 / 24972 0.036%
America/Latino 31 / 35436 0.0875%
Ashkenazi Jewish 31 / 10370 0.299%
East Asian 0 / 19954 0%
Finnish 3 / 25122 0.0119%
Non-Finnish 282 / 129174 0.218%
Other 13 / 7224 0.18%
South Asian 4 / 30616 0.0131%
Korean 0 / 3818 0%
Japanese 0 / 152 0%
Other East Asian 0 / 14424 0%
Bulgarian 6 / 2670 0.225%
Estonian 1 / 4824 0.0207%
North-Western European 90 / 50816 0.177%
Southern European 26 / 11610 0.224%
Swedish 95 / 26130 0.364%
Other non-Finnish European 64 / 33124 0.193%
Total MAF 373 / 282868 0.132%


Export Variant

Curation

Uncertain Significance