rs8040868
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000743.5(CHRNA3):c.159A>T(p.Val53=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. V53V) has been classified as Benign.
Frequency
Consequence
NM_000743.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHRNA3 | NM_000743.5 | c.159A>T | p.Val53= | synonymous_variant | 2/6 | ENST00000326828.6 | |
CHRNA3 | NM_001166694.2 | c.159A>T | p.Val53= | synonymous_variant | 2/6 | ||
CHRNA3 | XM_006720382.4 | c.-43A>T | 5_prime_UTR_variant | 2/6 | |||
CHRNA3 | NR_046313.2 | n.361A>T | non_coding_transcript_exon_variant | 2/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHRNA3 | ENST00000326828.6 | c.159A>T | p.Val53= | synonymous_variant | 2/6 | 1 | NM_000743.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 51
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at