1:2234791-2234791 C > T

Classification

Category 4

CMH MAF

87 / 6955 samples (1.25%)
87 het., 0 hom. (100%)
87 / 13910 total alleles (0.625%)

Genes

Consequences
gene: SKI synonym(s): SGS, SKV, SKI, ENSG00000157933

NM_003036.3 [CDS] Reportable
hgvs_c: NM_003036.3:c.1163C>T
reference AA: A
variant AA: V
reference codon: gCg
variant codon: gTg
cDNA pos: 1235
CDS pos: 1163
translation impact: non_synonymous
protein sequence: NP_003027.1
AA pos: 388
hgvs_p: NP_003027.1:p.Ala388Val
blosum: 0
SIFT: tolerated (0.29)
PolyPhen2: benign (0.008)

dbSNP

rs75280988
GMAF = 0.001797
TOPMED_MAF = 0.00441195208970438

ClinVar

213668
clinvar_significance = Benign_Likely_benign
clinvar_disease = Shprintzen-Goldberg syndrome
clinvar_submission_scv = SCV000511006.1

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.005930,0.000454,0.004075

ExAC

ExAC
Ethnicity Count / Number MAF
African 11 / 10374 0.106%
America/Latino 38 / 11574 0.328%
East Asian 1 / 8642 0.0116%
Finnish 3 / 6614 0.0454%
Non-Finnish 403 / 66502 0.606%
Other 7 / 902 0.776%
South Asian 3 / 16512 0.0182%
Total MAF 466 / 121120 0.385%

COSMIC

COSMIC Mutation ID = COSM4028580
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 25 / 24036 0.104%
America/Latino 143 / 34420 0.415%
Ashkenazi Jewish 141 / 10150 1.39%
East Asian 2 / 18868 0.0106%
Finnish 16 / 25674 0.0623%
Non-Finnish 748 / 126670 0.591%
Other 33 / 6466 0.51%
South Asian 10 / 30782 0.0325%
Total MAF 1118 / 277066 0.404%


Export Variant

Curation

Likely Benign