NM_015151.4:c.2079G>A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_015151.4(DIP2A):c.2079G>A(p.Leu693Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.332 in 1,613,500 control chromosomes in the GnomAD database, including 90,971 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_015151.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.369 AC: 56034AN: 151868Hom.: 10931 Cov.: 32
GnomAD3 exomes AF: 0.328 AC: 81753AN: 249152Hom.: 14106 AF XY: 0.329 AC XY: 44515AN XY: 135162
GnomAD4 exome AF: 0.328 AC: 478794AN: 1461514Hom.: 80010 Cov.: 40 AF XY: 0.327 AC XY: 238017AN XY: 727034
GnomAD4 genome AF: 0.369 AC: 56116AN: 151986Hom.: 10961 Cov.: 32 AF XY: 0.364 AC XY: 26997AN XY: 74258
ClinVar
Submissions by phenotype
DIP2A-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