chr1-206453482-G-T
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The NM_015326.5(SRGAP2):c.2360+102G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000873 in 469,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_015326.5 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000218 AC: 33AN: 151214Hom.: 0 Cov.: 29 show subpopulations
GnomAD4 exome AF: 0.0000251 AC: 8AN: 318304Hom.: 0 Cov.: 0 AF XY: 0.0000121 AC XY: 2AN XY: 165806 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000218 AC: 33AN: 151214Hom.: 0 Cov.: 29 AF XY: 0.000203 AC XY: 15AN XY: 73750 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at