22-20917970-C-T
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_ModerateBP6_Very_StrongBP7BS2
The NM_005207.4(CRKL):c.36C>T(p.Ser12Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000577 in 1,614,134 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_005207.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00311 AC: 473AN: 152216Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000788 AC: 197AN: 250112Hom.: 0 AF XY: 0.000613 AC XY: 83AN XY: 135422
GnomAD4 exome AF: 0.000315 AC: 460AN: 1461800Hom.: 0 Cov.: 31 AF XY: 0.000274 AC XY: 199AN XY: 727200
GnomAD4 genome AF: 0.00310 AC: 472AN: 152334Hom.: 3 Cov.: 32 AF XY: 0.00316 AC XY: 235AN XY: 74474
ClinVar
Submissions by phenotype
not provided Benign:2
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CRKL-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at