17-63910248-T-C
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_022579.3(CSHL1):āc.385A>Gā(p.Thr129Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0006 in 1,614,004 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_022579.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00308 AC: 469AN: 152040Hom.: 6 Cov.: 32
GnomAD3 exomes AF: 0.000819 AC: 206AN: 251422Hom.: 1 AF XY: 0.000625 AC XY: 85AN XY: 135904
GnomAD4 exome AF: 0.000342 AC: 500AN: 1461846Hom.: 2 Cov.: 84 AF XY: 0.000309 AC XY: 225AN XY: 727228
GnomAD4 genome AF: 0.00308 AC: 469AN: 152158Hom.: 6 Cov.: 32 AF XY: 0.00312 AC XY: 232AN XY: 74404
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at