chr1-1387227-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_030937.6(CCNL2):c.*4G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00193 in 1,596,080 control chromosomes in the GnomAD database, including 48 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_030937.6 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00871 AC: 1326AN: 152268Hom.: 23 Cov.: 33
GnomAD3 exomes AF: 0.00292 AC: 707AN: 242042Hom.: 8 AF XY: 0.00231 AC XY: 303AN XY: 131334
GnomAD4 exome AF: 0.00121 AC: 1752AN: 1443694Hom.: 25 Cov.: 30 AF XY: 0.00112 AC XY: 800AN XY: 716974
GnomAD4 genome AF: 0.00875 AC: 1334AN: 152386Hom.: 23 Cov.: 33 AF XY: 0.00879 AC XY: 655AN XY: 74528
ClinVar
Submissions by phenotype
CCNL2-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