chr17-29566857-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198147.3(ABHD15):c.110C>A(p.Thr37Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000166 in 1,509,756 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198147.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABHD15 | NM_198147.3 | c.110C>A | p.Thr37Asn | missense_variant | 1/2 | ENST00000307201.5 | |
TP53I13 | XM_047437003.1 | c.-275+269G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABHD15 | ENST00000307201.5 | c.110C>A | p.Thr37Asn | missense_variant | 1/2 | 1 | NM_198147.3 | P1 | |
ABHD15-AS1 | ENST00000581474.1 | n.153+6158G>T | intron_variant, non_coding_transcript_variant | 5 | |||||
TP53I13 | ENST00000578073.1 | n.177+629G>T | intron_variant, non_coding_transcript_variant | 4 | |||||
TP53I13 | ENST00000584522.1 | n.288+269G>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152102Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000169 AC: 23AN: 1357654Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 9AN XY: 669918
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152102Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74300
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at