rs11637630
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000743.5(CHRNA3):c.378-5113C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.708 in 152,010 control chromosomes in the GnomAD database, including 38,864 homozygotes. 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
Genomes: 𝑓 0.71 ( 38858 hom., cov: 31)
Exomes 𝑓: 0.67 ( 6 hom. )
Consequence
CHRNA3
NM_000743.5 intron
NM_000743.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.666
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]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.99).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.768 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHRNA3 | NM_000743.5 | c.378-5113C>T | intron_variant | ENST00000326828.6 | |||
CHRNA3 | NM_001166694.2 | c.378-5113C>T | intron_variant | ||||
CHRNA3 | XM_006720382.4 | c.177-5113C>T | intron_variant | ||||
CHRNA3 | NR_046313.2 | n.580-5113C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHRNA3 | ENST00000326828.6 | c.378-5113C>T | intron_variant | 1 | NM_000743.5 | P1 | |||
CHRNA3 | ENST00000348639.7 | c.378-5113C>T | intron_variant | 1 | |||||
CHRNA3 | ENST00000559658.5 | c.378-5113C>T | intron_variant, NMD_transcript_variant | 2 | |||||
CHRNA3 | ENST00000558903.1 | n.84+64C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.708 AC: 107516AN: 151868Hom.: 38838 Cov.: 31
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GnomAD4 exome AF: 0.667 AC: 16AN: 24Hom.: 6 AF XY: 0.600 AC XY: 12AN XY: 20
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GnomAD4 genome ? AF: 0.708 AC: 107569AN: 151986Hom.: 38858 Cov.: 31 AF XY: 0.700 AC XY: 52010AN XY: 74274
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at