2-147943530-GAA-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_181741.4(ORC4):c.763-10_763-9delTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0615 in 1,125,406 control chromosomes in the GnomAD database, including 5 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_181741.4 intron
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: 0.00210 AC: 275AN: 131250Hom.: 3 Cov.: 0
GnomAD4 exome AF: 0.0694 AC: 68969AN: 994138Hom.: 2 AF XY: 0.0689 AC XY: 35039AN XY: 508688
GnomAD4 genome AF: 0.00209 AC: 274AN: 131268Hom.: 3 Cov.: 0 AF XY: 0.00205 AC XY: 130AN XY: 63348
ClinVar
Submissions by phenotype
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 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at