rs7180002
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000745.4(CHRNA5):c.258+689A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.255 in 152,138 control chromosomes in the GnomAD database, including 5,999 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 0.25 ( 5999 hom., cov: 32)
Consequence
CHRNA5
NM_000745.4 intron
NM_000745.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.824
Genes affected
CHRNA5 (HGNC:1959): (cholinergic receptor nicotinic alpha 5 subunit) The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
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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=-0.91).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.343 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHRNA5 | NM_000745.4 | c.258+689A>T | intron_variant | ENST00000299565.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHRNA5 | ENST00000299565.9 | c.258+689A>T | intron_variant | 1 | NM_000745.4 | P1 | |||
CHRNA5 | ENST00000394802.4 | c.73+689A>T | intron_variant | 3 | |||||
CHRNA5 | ENST00000559554.5 | c.258+689A>T | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.255 AC: 38745AN: 152020Hom.: 5999 Cov.: 32
GnomAD3 genomes
?
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152020
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.255 AC: 38760AN: 152138Hom.: 5999 Cov.: 32 AF XY: 0.252 AC XY: 18728AN XY: 74374
GnomAD4 genome
?
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38760
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152138
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32
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18728
AN XY:
74374
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420
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3456
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at