chr19-40848643-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000762.6(CYP2A6):c.464T>G(p.Phe155Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000762.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP2A6 | NM_000762.6 | c.464T>G | p.Phe155Cys | missense_variant | 3/9 | ENST00000301141.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP2A6 | ENST00000301141.10 | c.464T>G | p.Phe155Cys | missense_variant | 3/9 | 1 | NM_000762.6 | P1 | |
CYP2A6 | ENST00000596719.5 | n.315T>G | non_coding_transcript_exon_variant | 2/6 | 1 | ||||
CYP2A6 | ENST00000600495.1 | c.*276T>G | 3_prime_UTR_variant, NMD_transcript_variant | 3/6 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 65
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 04, 2022 | The c.464T>G (p.F155C) alteration is located in exon 3 (coding exon 3) of the CYP2A6 gene. This alteration results from a T to G substitution at nucleotide position 464, causing the phenylalanine (F) at amino acid position 155 to be replaced by a cysteine (C). 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
Publications
No publications associated with this variant yet.