12-119688253-G-C
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_001206999.2(CIT):āc.6189C>Gā(p.Val2063Val) variant causes a splice region, synonymous change. The variant allele was found at a frequency of 0.000376 in 1,602,342 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001206999.2 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000476 AC: 67AN: 140638Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00107 AC: 265AN: 248474Hom.: 0 AF XY: 0.00111 AC XY: 149AN XY: 134452
GnomAD4 exome AF: 0.000366 AC: 535AN: 1461594Hom.: 2 Cov.: 30 AF XY: 0.000384 AC XY: 279AN XY: 727124
GnomAD4 genome AF: 0.000476 AC: 67AN: 140748Hom.: 1 Cov.: 33 AF XY: 0.000523 AC XY: 36AN XY: 68794
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