rs1851880

Variant names:

• chr9-71870641-G-A
• rs1851880
• NM_001025780.3:c.468-379C>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001025780.3(ABHD17B):​c.468-379C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.936 in 152,228 control chromosomes in the GnomAD database, including 67,281 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.

• Frequency: Genomes: 𝑓 0.94 (67281 hom., cov: 33)
• Consequence: ABHD17B NM_001025780.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.629
• Publications: 1 publications found

Genes affected

ABHD17B (HGNC:24278): (abhydrolase domain containing 17B, depalmitoylase) Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.989 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ABHD17B	NM_001025780.3	c.468-379C>T		intron_variant	Intron 2 of 3	ENST00000333421.7	NP_001020951.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ABHD17B	ENST00000333421.7	c.468-379C>T		intron_variant	Intron 2 of 3	1	NM_001025780.3	ENSP00000330222.6
ABHD17B	ENST00000377041.6	c.468-379C>T		intron_variant	Intron 2 of 4	1		ENSP00000366240.2

Frequencies

GnomAD3 genomes AF: 0.936 AC: 142394 AN: 152110 Hom.: 67285 Cov.: 33

Gnomad AFR AF: 0.791

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.972

Gnomad ASJ AF: 0.976

Gnomad EAS AF: 1.00

Gnomad SAS AF: 0.990

Gnomad FIN AF: 0.994

Gnomad MID AF: 0.959

Gnomad NFE AF: 0.995

Gnomad OTH AF: 0.949

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.936 AC: 142430 AN: 152228 Hom.: 67281 Cov.: 33 AF XY: 0.938 AC XY: 69791 AN XY: 74438

African (AFR) AF: 0.790 AC: 32776 AN: 41484

American (AMR) AF: 0.972 AC: 14859 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.976 AC: 3389 AN: 3472

East Asian (EAS) AF: 1.00 AC: 5189 AN: 5190

South Asian (SAS) AF: 0.990 AC: 4777 AN: 4826

European-Finnish (FIN) AF: 0.994 AC: 10549 AN: 10612

Middle Eastern (MID) AF: 0.956 AC: 281 AN: 294

European-Non Finnish (NFE) AF: 0.995 AC: 67699 AN: 68036

Other (OTH) AF: 0.946 AC: 1999 AN: 2114

Alfa AF: 0.954 Hom.: 9010

Bravo AF: 0.927

Asia WGS AF: 0.957 AC: 3304 AN: 3452

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.79
DANN	Benign	0.44
PhyloP100		-0.63
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs1851880; hg19: chr9-74485557;