4-76006220-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_002416.3(CXCL9):āc.119C>Gā(p.Thr40Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000152 in 1,613,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_002416.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000802 AC: 122AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000207 AC: 52AN: 251456Hom.: 1 AF XY: 0.000155 AC XY: 21AN XY: 135902
GnomAD4 exome AF: 0.0000848 AC: 124AN: 1461520Hom.: 0 Cov.: 30 AF XY: 0.0000839 AC XY: 61AN XY: 727082
GnomAD4 genome AF: 0.000801 AC: 122AN: 152318Hom.: 0 Cov.: 32 AF XY: 0.000685 AC XY: 51AN XY: 74502
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Mar 29, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at