1:47745980-47745980 C > A

Classification

Category 1

CMH MAF

4 / 6955 samples (0.0575%)
4 het., 0 hom. (100%)
4 / 13910 total alleles (0.0288%)

Genes

Consequences
gene: STIL synonym(s): MCPH7, SIL, STIL, ENSG00000123473

NM_001048166.1 [CDS]
hgvs_c: NM_001048166.1:c.2150G>T
reference AA: G
variant AA: V
reference codon: gGa
variant codon: gTa
cDNA pos: 2305
CDS pos: 2150
translation impact: non_synonymous
protein sequence: NP_001041631.1
AA pos: 717
hgvs_p: NP_001041631.1:p.Gly717Val
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)

NM_003035.2 [CDS] Reportable
hgvs_c: NM_003035.2:c.2150G>T
reference AA: G
variant AA: V
reference codon: gGa
variant codon: gTa
cDNA pos: 2305
CDS pos: 2150
translation impact: non_synonymous
protein sequence: NP_003026.2
AA pos: 717
hgvs_p: NP_003026.2:p.Gly717Val
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)

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

TRNAN-GUU [intron] Reportable

dbSNP

rs1011425886
TOPMED_MAF = 0.00003185524974515

gnomAD

gnomAD
Source: Genome

Ethnicity Count / Number MAF
African 0 / 8734 0%
America/Latino 0 / 838 0%
Ashkenazi Jewish 0 / 302 0%
East Asian 0 / 1622 0%
Finnish 0 / 3494 0%
Non-Finnish 1 / 15004 0.00666%
Other 0 / 982 0%
Total MAF 1 / 30976 0.00323%


Export Variant

Curation

Likely pathogenic