rs71651692
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000748.3(CHRNB2):c.77C>A(p.Thr26Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000658 in 152,026 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T26M) has been classified as Likely benign.
Frequency
Consequence
NM_000748.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CHRNB2 | NM_000748.3 | c.77C>A | p.Thr26Lys | missense_variant | 2/6 | ENST00000368476.4 | |
CHRNB2 | XR_001736952.3 | n.344C>A | non_coding_transcript_exon_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CHRNB2 | ENST00000368476.4 | c.77C>A | p.Thr26Lys | missense_variant | 2/6 | 1 | NM_000748.3 | P4 | |
CHRNB2 | ENST00000637900.1 | c.77C>A | p.Thr26Lys | missense_variant | 2/6 | 5 | A1 | ||
CHRNB2 | ENST00000636034.1 | c.77C>A | p.Thr26Lys | missense_variant, NMD_transcript_variant | 2/9 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152026Hom.: 0 Cov.: 31
GnomAD4 exome Cov.: 34
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152026Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74260
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at