8-13085873-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_182643.3(DLC1):c.4525G>A(p.Val1509Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000164 in 1,614,168 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 Benign (★).
Frequency
Consequence
NM_182643.3 missense
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: 0.000276 AC: 42AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000509 AC: 128AN: 251458Hom.: 0 AF XY: 0.000456 AC XY: 62AN XY: 135910
GnomAD4 exome AF: 0.000153 AC: 223AN: 1461862Hom.: 0 Cov.: 30 AF XY: 0.000143 AC XY: 104AN XY: 727234
GnomAD4 genome AF: 0.000276 AC: 42AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.000363 AC XY: 27AN XY: 74464
ClinVar
Submissions by phenotype
DLC1-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). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at