14-50904131-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001206673.2(ABHD12B):āc.1000T>Cā(p.Phe334Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0406 in 1,614,048 control chromosomes in the GnomAD database, including 1,763 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001206673.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABHD12B | NM_001206673.2 | c.1000T>C | p.Phe334Leu | missense_variant | 12/13 | ENST00000337334.7 | |
ABHD12B | NM_181814.2 | c.769T>C | p.Phe257Leu | missense_variant | 10/11 | ||
ABHD12B | NM_181533.4 | c.679T>C | p.Phe227Leu | missense_variant | 11/12 | ||
ABHD12B | XM_011536474.3 | c.874T>C | p.Phe292Leu | missense_variant | 12/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABHD12B | ENST00000337334.7 | c.1000T>C | p.Phe334Leu | missense_variant | 12/13 | 1 | NM_001206673.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0599 AC: 9116AN: 152164Hom.: 397 Cov.: 32
GnomAD3 exomes AF: 0.0407 AC: 10230AN: 251342Hom.: 323 AF XY: 0.0406 AC XY: 5514AN XY: 135830
GnomAD4 exome AF: 0.0385 AC: 56333AN: 1461768Hom.: 1364 Cov.: 32 AF XY: 0.0387 AC XY: 28115AN XY: 727202
GnomAD4 genome AF: 0.0599 AC: 9118AN: 152280Hom.: 399 Cov.: 32 AF XY: 0.0599 AC XY: 4458AN XY: 74478
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at