chr15-78596440-A-ATTTTT
Position:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000743.5(CHRNA3):c.*163_*164insAAAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 0)
Consequence
CHRNA3
NM_000743.5 3_prime_UTR
NM_000743.5 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.998
Genes affected
CHRNA3 (HGNC:1957): (cholinergic receptor nicotinic alpha 3 subunit) This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHRNA3 | NM_000743.5 | c.*163_*164insAAAAA | 3_prime_UTR_variant | 6/6 | ENST00000326828.6 | ||
CHRNA3 | XM_006720382.4 | c.*163_*164insAAAAA | 3_prime_UTR_variant | 6/6 | |||
CHRNA3 | NM_001166694.2 | c.1390-3250_1390-3249insAAAAA | intron_variant | ||||
CHRNA3 | NR_046313.2 | n.1784+99_1784+100insAAAAA | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHRNA3 | ENST00000326828.6 | c.*163_*164insAAAAA | 3_prime_UTR_variant | 6/6 | 1 | NM_000743.5 | P1 | ||
CHRNA3 | ENST00000348639.7 | c.1390-3250_1390-3249insAAAAA | intron_variant | 1 | |||||
CHRNA3 | ENST00000559002.5 | n.193+99_193+100insAAAAA | intron_variant, non_coding_transcript_variant | 1 | |||||
CHRNA3 | ENST00000559658.5 | c.*64+99_*64+100insAAAAA | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 genomes
Cov.:
0
GnomAD4 exome Cov.: 0
GnomAD4 exome
Cov.:
0
GnomAD4 genome Cov.: 0
GnomAD4 genome
Cov.:
0
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at