rs4665947

Variant names:

• chr2-27125161-T-C
• rs4665947
• NM_032604.4:c.114+1099T>C

Variant summary

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

The NM_032604.4(ABHD1):​c.114+1099T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.336 in 151,392 control chromosomes in the GnomAD database, including 9,171 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 0.34 (9167 hom., cov: 31)
  • Exomes 𝑓: 0.41 (4 hom.)
• Consequence: ABHD1 NM_032604.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.33
• Publications: 5 publications found

Genes affected

ABHD1 (HGNC:17553): (abhydrolase domain containing 1) This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.496 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_032604.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ABHD1	NM_032604.4	MANE Select	c.114+1099T>C		intron	N/A	NP_115993.3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ABHD1	ENST00000316470.9	TSL:1 MANE Select	c.114+1099T>C		intron	N/A	ENSP00000326491.4	Q96SE0-1
	ABHD1	ENST00000420647.5	TSL:1	n.86+1099T>C		intron	N/A	ENSP00000390390.1	F8WBB3
	ABHD1	ENST00000489120.5	TSL:1	n.274+1099T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.336 AC: 50813 AN: 151260 Hom.: 9140 Cov.: 31

Gnomad AFR AF: 0.242

Gnomad AMI AF: 0.511

Gnomad AMR AF: 0.505

Gnomad ASJ AF: 0.394

Gnomad EAS AF: 0.314

Gnomad SAS AF: 0.346

Gnomad FIN AF: 0.275

Gnomad MID AF: 0.408

Gnomad NFE AF: 0.358

Gnomad OTH AF: 0.374

GnomAD4 exome AF: 0.412 AC: 14 AN: 34 Hom.: 4 Cov.: 0 AF XY: 0.318 AC XY: 7 AN XY: 22

African (AFR) AF: 0.500 AC: 1 AN: 2

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AF: 0.00 AC: 0 AN: 2

South Asian (SAS) AF: 1.00 AC: 2 AN: 2

European-Finnish (FIN) AC: 0 AN: 0

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AF: 0.423 AC: 11 AN: 26

Other (OTH) AF: 0.00 AC: 0 AN: 2

GnomAD4 genome AF: 0.336 AC: 50865 AN: 151358 Hom.: 9167 Cov.: 31 AF XY: 0.337 AC XY: 24871 AN XY: 73900

African (AFR) AF: 0.243 AC: 10012 AN: 41250

American (AMR) AF: 0.505 AC: 7684 AN: 15208

Ashkenazi Jewish (ASJ) AF: 0.394 AC: 1366 AN: 3466

East Asian (EAS) AF: 0.313 AC: 1611 AN: 5140

South Asian (SAS) AF: 0.346 AC: 1659 AN: 4798

European-Finnish (FIN) AF: 0.275 AC: 2863 AN: 10402

Middle Eastern (MID) AF: 0.401 AC: 117 AN: 292

European-Non Finnish (NFE) AF: 0.358 AC: 24297 AN: 67794

Other (OTH) AF: 0.377 AC: 793 AN: 2102

Alfa AF: 0.369 Hom.: 16849

Bravo AF: 0.355

Asia WGS AF: 0.333 AC: 1145 AN: 3444

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	6.5
DANN	Benign	0.64
PhyloP100		1.3
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: rs4665947; hg19: chr2-27348029;