chr11-34071722-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_005898.5(CAPRIN1):c.217-4A>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00402 in 1,605,760 control chromosomes in the GnomAD database, including 33 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_005898.5 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00365 AC: 556AN: 152194Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00454 AC: 1139AN: 250928Hom.: 7 AF XY: 0.00489 AC XY: 663AN XY: 135662
GnomAD4 exome AF: 0.00406 AC: 5906AN: 1453448Hom.: 32 Cov.: 27 AF XY: 0.00424 AC XY: 3070AN XY: 723764
GnomAD4 genome AF: 0.00365 AC: 556AN: 152312Hom.: 1 Cov.: 32 AF XY: 0.00392 AC XY: 292AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jan 01, 2025 | CAPRIN1: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at