chr6-44387822-A-G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_001253.4(CDC5L):c.-2A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000652 in 1,564,938 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001253.4 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000348 AC: 53AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000625 AC: 11AN: 176070Hom.: 0 AF XY: 0.0000427 AC XY: 4AN XY: 93754
GnomAD4 exome AF: 0.0000347 AC: 49AN: 1412610Hom.: 0 Cov.: 32 AF XY: 0.0000243 AC XY: 17AN XY: 698236
GnomAD4 genome AF: 0.000348 AC: 53AN: 152328Hom.: 0 Cov.: 33 AF XY: 0.000389 AC XY: 29AN XY: 74486
ClinVar
Submissions by phenotype
CDC5L-related disorder Benign:1
This variant is classified as likely 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