rs281865072
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM2PM5BP4_Moderate
The NM_000748.3(CHRNB2):c.1010T>A(p.Val337Asp) variant causes a missense 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. 13/21 in silico tools predict 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. V337G) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000748.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CHRNB2 | NM_000748.3 | c.1010T>A | p.Val337Asp | missense_variant | 5/6 | ENST00000368476.4 | NP_000739.1 | |
CHRNB2 | XM_017000180.3 | c.500T>A | p.Val167Asp | missense_variant | 2/3 | XP_016855669.1 | ||
CHRNB2 | XR_001736952.3 | n.1277T>A | non_coding_transcript_exon_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CHRNB2 | ENST00000368476.4 | c.1010T>A | p.Val337Asp | missense_variant | 5/6 | 1 | NM_000748.3 | ENSP00000357461.3 | ||
CHRNB2 | ENST00000637900.1 | c.1016T>A | p.Val339Asp | missense_variant | 5/6 | 5 | ENSP00000490474.1 | |||
CHRNB2 | ENST00000636034.1 | n.1010T>A | non_coding_transcript_exon_variant | 5/9 | 5 | ENSP00000489703.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248322Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134524
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.85e-7 AC: 1AN: 1460862Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726782
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at