chr15-74721003-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001319217.2(CYP1A1):c.1217G>A(p.Cys406Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000233 in 1,461,878 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001319217.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP1A1 | NM_001319217.2 | c.1217G>A | p.Cys406Tyr | missense_variant | Exon 6 of 7 | ENST00000379727.8 | NP_001306146.1 | |
CYP1A1 | NM_000499.5 | c.1217G>A | p.Cys406Tyr | missense_variant | Exon 6 of 7 | NP_000490.1 | ||
CYP1A1 | NM_001319216.2 | c.1166+196G>A | intron_variant | Intron 5 of 5 | NP_001306145.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251470Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135910
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1461878Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 727242
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1217G>A (p.C406Y) alteration is located in exon 6 (coding exon 5) of the CYP1A1 gene. This alteration results from a G to A substitution at nucleotide position 1217, causing the cysteine (C) at amino acid position 406 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