rs815611
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000518497.6(MFAP3):n.430-10660G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.481 in 151,992 control chromosomes in the GnomAD database, including 18,638 homozygotes. 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
ENST00000518497.6 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MFAP3 | ENST00000518497.6 | n.430-10660G>A | intron_variant, non_coding_transcript_variant | 4 | |||||
MFAP3 | ENST00000519325.1 | n.321+4290G>A | intron_variant, non_coding_transcript_variant | 3 | |||||
MFAP3 | ENST00000519612.5 | n.501+4290G>A | intron_variant, non_coding_transcript_variant | 4 | |||||
MFAP3 | ENST00000520327.6 | n.293-10660G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.481 AC: 73051AN: 151872Hom.: 18640 Cov.: 31
GnomAD4 genome AF: 0.481 AC: 73087AN: 151992Hom.: 18638 Cov.: 31 AF XY: 0.477 AC XY: 35439AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at