11-61816744-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_013402.7(FADS1):āc.186G>Cā(p.Pro62Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000193 in 1,551,828 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
NM_013402.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FADS1 | NM_013402.7 | c.186G>C | p.Pro62Pro | synonymous_variant | Exon 1 of 12 | ENST00000350997.12 | NP_037534.5 | |
FADS2 | NM_001281501.1 | c.141+318C>G | intron_variant | Intron 1 of 11 | NP_001268430.1 | |||
FADS2 | NM_001281502.1 | c.114+48C>G | intron_variant | Intron 1 of 11 | NP_001268431.1 | |||
FADS2 | XM_047427889.1 | c.-2360+318C>G | intron_variant | Intron 1 of 12 | XP_047283845.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FADS1 | ENST00000350997.12 | c.186G>C | p.Pro62Pro | synonymous_variant | Exon 1 of 12 | 1 | NM_013402.7 | ENSP00000322229.9 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152132Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1399696Hom.: 0 Cov.: 31 AF XY: 0.00000145 AC XY: 1AN XY: 691086
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at