3-51970155-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001146314.2(ABHD14B):c.241C>T(p.Pro81Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000208 in 1,545,658 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. P81A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001146314.2 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 |
---|---|---|---|---|---|---|---|
ABHD14B | NM_001146314.2 | c.241C>T | p.Pro81Ser | missense_variant | 3/4 | ENST00000361143.10 | |
ABHD14B | NM_032750.3 | c.241C>T | p.Pro81Ser | missense_variant | 3/4 | ||
ABHD14B | NM_001254753.1 | c.127C>T | p.Pro43Ser | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABHD14B | ENST00000361143.10 | c.241C>T | p.Pro81Ser | missense_variant | 3/4 | 1 | NM_001146314.2 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.000131 AC: 20AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000842 AC: 16AN: 190028Hom.: 0 AF XY: 0.0000995 AC XY: 10AN XY: 100536
GnomAD4 exome AF: 0.000216 AC: 301AN: 1393440Hom.: 0 Cov.: 31 AF XY: 0.000207 AC XY: 142AN XY: 686080
GnomAD4 genome ? AF: 0.000131 AC: 20AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.0000941 AC XY: 7AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 28, 2023 | The c.241C>T (p.P81S) alteration is located in exon 3 (coding exon 2) of the ABHD14B gene. This alteration results from a C to T substitution at nucleotide position 241, causing the proline (P) at amino acid position 81 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at