3-4025185-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000661097.1(ENSG00000287720):n.304-2809T>C 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 0.759 in 151,626 control chromosomes in the GnomAD database, including 45,262 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
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC102723512 | XR_007095788.1 | n.946-2809T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000661097.1 | n.304-2809T>C | intron_variant, non_coding_transcript_variant | |||||||
SUMF1 | ENST00000448413.5 | c.1191+43384A>G | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.760 AC: 115089AN: 151510Hom.: 45257 Cov.: 31
GnomAD4 genome AF: 0.759 AC: 115129AN: 151626Hom.: 45262 Cov.: 31 AF XY: 0.763 AC XY: 56550AN XY: 74136
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at