rs77186188
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001042475.3(CEP85L):c.1020+17269T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0403 in 152,116 control chromosomes in the GnomAD database, including 198 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001042475.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0403 AC: 6130AN: 151984Hom.: 199 Cov.: 32
GnomAD4 exome AF: 0.0714 AC: 1AN: 14Hom.: 0 Cov.: 0 AF XY: 0.0833 AC XY: 1AN XY: 12
GnomAD4 genome AF: 0.0403 AC: 6128AN: 152102Hom.: 198 Cov.: 32 AF XY: 0.0398 AC XY: 2956AN XY: 74356
ClinVar
Submissions by phenotype
Dilated cardiomyopathy 1P Pathogenic:1Benign:1
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not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 67/2178=3% -
not provided Benign:1
This variant is associated with the following publications: (PMID: 18241046, 24037902, 21167350) -
Lissencephaly 10 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at