rs58697961
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002615.7(SERPINF1):c.-9+17G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.319 in 152,604 control chromosomes in the GnomAD database, including 8,728 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002615.7 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINF1 | NM_002615.7 | c.-9+17G>A | intron_variant | Intron 1 of 7 | ENST00000254722.9 | NP_002606.3 | ||
SERPINF1 | NM_001329904.2 | c.-478+17G>A | intron_variant | Intron 1 of 6 | NP_001316833.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.319 AC: 48455AN: 152050Hom.: 8690 Cov.: 33
GnomAD4 exome AF: 0.406 AC: 177AN: 436Hom.: 34 Cov.: 0 AF XY: 0.396 AC XY: 126AN XY: 318
GnomAD4 genome AF: 0.319 AC: 48471AN: 152168Hom.: 8694 Cov.: 33 AF XY: 0.327 AC XY: 24319AN XY: 74396
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at