17-74881126-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_178128.6(FADS6):c.722G>A(p.Cys241Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000502 in 1,613,508 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178128.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FADS6 | NM_178128.6 | c.722G>A | p.Cys241Tyr | missense_variant | Exon 4 of 6 | ENST00000612771.5 | NP_835229.3 | |
FADS6 | XM_005257224.6 | c.722G>A | p.Cys241Tyr | missense_variant | Exon 4 of 7 | XP_005257281.2 | ||
FADS6 | XM_017024458.3 | c.668G>A | p.Cys223Tyr | missense_variant | Exon 5 of 8 | XP_016879947.1 | ||
FADS6 | XM_047435759.1 | c.263G>A | p.Cys88Tyr | missense_variant | Exon 3 of 6 | XP_047291715.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FADS6 | ENST00000612771.5 | c.722G>A | p.Cys241Tyr | missense_variant | Exon 4 of 6 | 1 | NM_178128.6 | ENSP00000481684.1 | ||
FADS6 | ENST00000579663.1 | c.305G>A | p.Cys102Tyr | missense_variant | Exon 2 of 3 | 3 | ENSP00000464267.1 | |||
FADS6 | ENST00000413142.2 | n.355+1404G>A | intron_variant | Intron 1 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152206Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000109 AC: 27AN: 247488Hom.: 0 AF XY: 0.000163 AC XY: 22AN XY: 134584
GnomAD4 exome AF: 0.0000520 AC: 76AN: 1461302Hom.: 0 Cov.: 31 AF XY: 0.0000757 AC XY: 55AN XY: 726872
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152206Hom.: 1 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.668G>A (p.C223Y) alteration is located in exon 4 (coding exon 4) of the FADS6 gene. This alteration results from a G to A substitution at nucleotide position 668, causing the cysteine (C) at amino acid position 223 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at