rs2967625

Variant names:

• chr19-8233527-G-A
• rs2967625
• NM_024552.3:c.-1-17549G>A

Your query was ambiguous. Multiple possible variants found:

• chr19-8233527-G-A
• chr19-8233527-G-C
• chr19-8233527-G-T

Variant summary

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

The NM_024552.3(CERS4):​c.-1-17549G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.457 in 151,560 control chromosomes in the GnomAD database, including 15,990 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 0.46 (15990 hom., cov: 29)
• Consequence: CERS4 NM_024552.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.118
• Publications: 12 publications found

Genes affected

CERS4 (HGNC:23747): (ceramide synthase 4) Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000271717 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.478 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_024552.3. 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
	CERS4	NM_024552.3	MANE Select	c.-1-17549G>A		intron	N/A	NP_078828.2	Q9HA82

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CERS4	ENST00000251363.10	TSL:1 MANE Select	c.-1-17549G>A		intron	N/A	ENSP00000251363.5	Q9HA82
	CERS4	ENST00000559336.5	TSL:1	c.-1-17549G>A		intron	N/A	ENSP00000453815.1	H0YN04
	CERS4	ENST00000595722.5	TSL:1	n.386-7814G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.457 AC: 69220 AN: 151442 Hom.: 15983 Cov.: 29

Gnomad AFR AF: 0.410

Gnomad AMI AF: 0.339

Gnomad AMR AF: 0.473

Gnomad ASJ AF: 0.456

Gnomad EAS AF: 0.410

Gnomad SAS AF: 0.363

Gnomad FIN AF: 0.528

Gnomad MID AF: 0.396

Gnomad NFE AF: 0.482

Gnomad OTH AF: 0.481

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

GnomAD4 genome AF: 0.457 AC: 69264 AN: 151560 Hom.: 15990 Cov.: 29 AF XY: 0.457 AC XY: 33800 AN XY: 74024

African (AFR) AF: 0.410 AC: 16944 AN: 41330

American (AMR) AF: 0.474 AC: 7193 AN: 15180

Ashkenazi Jewish (ASJ) AF: 0.456 AC: 1580 AN: 3466

East Asian (EAS) AF: 0.410 AC: 2100 AN: 5124

South Asian (SAS) AF: 0.363 AC: 1743 AN: 4798

European-Finnish (FIN) AF: 0.528 AC: 5545 AN: 10498

Middle Eastern (MID) AF: 0.405 AC: 119 AN: 294

European-Non Finnish (NFE) AF: 0.482 AC: 32730 AN: 67858

Other (OTH) AF: 0.477 AC: 1001 AN: 2100

Alfa AF: 0.473 Hom.: 76554

Bravo AF: 0.454

Asia WGS AF: 0.391 AC: 1360 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.3
DANN	Benign	0.82
PhyloP100		0.12
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: rs2967625; hg19: chr19-8298411;