chr17-44170898-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_080863.5(ASB16):c.109C>T(p.Arg37Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000453 in 1,612,012 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R37Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_080863.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASB16 | NM_080863.5 | c.109C>T | p.Arg37Trp | missense_variant | 1/5 | ENST00000293414.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB16 | ENST00000293414.6 | c.109C>T | p.Arg37Trp | missense_variant | 1/5 | 1 | NM_080863.5 | P1 | |
ASB16 | ENST00000589618.1 | c.109C>T | p.Arg37Trp | missense_variant, NMD_transcript_variant | 1/5 | 1 | |||
ASB16 | ENST00000591700.1 | c.-144C>T | 5_prime_UTR_variant | 2/3 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000614 AC: 15AN: 244244Hom.: 0 AF XY: 0.0000525 AC XY: 7AN XY: 133448
GnomAD4 exome AF: 0.0000432 AC: 63AN: 1459738Hom.: 0 Cov.: 29 AF XY: 0.0000303 AC XY: 22AN XY: 726160
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152274Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74468
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at