2-151636282-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001164507.2(NEB):c.9047G>T(p.Arg3016Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R3016Q) has been classified as Likely benign.
Frequency
Consequence
NM_001164507.2 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 | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.9047G>T | p.Arg3016Leu | missense_variant | 64/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.9047G>T | p.Arg3016Leu | missense_variant | 64/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.9047G>T | p.Arg3016Leu | missense_variant | 64/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.9047G>T | p.Arg3016Leu | missense_variant | 64/182 | 5 | NM_001164507.2 | A2 | |
NEB | ENST00000409198.5 | c.8853+3611G>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1457658Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 725262
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at