15-78893535-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006791.4(MORF4L1):c.541-4A>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.12 in 1,576,866 control chromosomes in the GnomAD database, including 12,328 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006791.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.129 AC: 19594AN: 152088Hom.: 1324 Cov.: 33
GnomAD3 exomes AF: 0.129 AC: 31905AN: 246378Hom.: 2272 AF XY: 0.128 AC XY: 17079AN XY: 133236
GnomAD4 exome AF: 0.119 AC: 169551AN: 1424660Hom.: 11004 Cov.: 27 AF XY: 0.119 AC XY: 84286AN XY: 710108
GnomAD4 genome AF: 0.129 AC: 19594AN: 152206Hom.: 1324 Cov.: 33 AF XY: 0.130 AC XY: 9680AN XY: 74418
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at