rs174547
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_013402.7(FADS1):c.1248+52A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.288 in 151986 control chromosomes in the gnomAD Genomes database, including 8125 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
Genomes: 𝑓 0.29 ( 8125 hom., cov: 32)
Consequence
FADS1
NM_013402.7 intron
NM_013402.7 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.366
Links
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BA1
?
GnomAd highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.538 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FADS1 | NM_013402.7 | c.1248+52A>G | intron_variant | ENST00000350997.12 | |||
FADS1 | XM_011545022.3 | c.1035+52A>G | intron_variant | ||||
FADS1 | XM_047426935.1 | c.825+52A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FADS1 | ENST00000350997.12 | c.1248+52A>G | intron_variant | 1 | NM_013402.7 | P1 |
Frequencies
GnomAD3 genomes AF: 0.288 AC: 43701AN: 151986Hom.: 8125 Cov.: 32
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GnomAD4 exome AF: 0.338 AC: 446677AN: 1320148Hom.: 82457 AF XY: 0.332 AC XY: 220249AN XY: 664042
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at