rs2517064

Variant names:

• chr8-17157928-C-G
• rs2517064
• NM_016353.5:c.130+1075C>G

Your query was ambiguous. Multiple possible variants found:

• chr8-17157928-C-G
• chr8-17157928-C-T

Variant summary

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

The NM_016353.5(ZDHHC2):​c.130+1075C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.32 in 152,098 control chromosomes in the GnomAD database, including 9,264 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 0.32 (9264 hom., cov: 32)
• Consequence: ZDHHC2 NM_016353.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0600
• Publications: 2 publications found

Genes affected

ZDHHC2 (HGNC:18469): (zinc finger DHHC-type palmitoyltransferase 2) Enables protein homodimerization activity and protein-cysteine S-palmitoyltransferase activity. Involved in several processes, including peptidyl-L-cysteine S-palmitoylation; regulation of protein catabolic process; and regulation of protein localization to plasma membrane. Located in Golgi apparatus and endoplasmic reticulum 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=-0.67).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.435 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_016353.5. 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
	ZDHHC2	NM_016353.5	MANE Select	c.130+1075C>G		intron	N/A	NP_057437.1	Q9UIJ5
	ZDHHC2	NM_001362988.2		c.11+512C>G		intron	N/A	NP_001349917.1
	ZDHHC2	NM_001362989.2		c.-6+512C>G		intron	N/A	NP_001349918.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZDHHC2	ENST00000262096.13	TSL:1 MANE Select	c.130+1075C>G		intron	N/A	ENSP00000262096.8	Q9UIJ5
	ZDHHC2	ENST00000955296.1		c.130+1075C>G		intron	N/A	ENSP00000625355.1
	ZDHHC2	ENST00000955297.1		c.130+1075C>G		intron	N/A	ENSP00000625356.1

Frequencies

GnomAD3 genomes AF: 0.321 AC: 48716 AN: 151980 Hom.: 9261 Cov.: 32

Gnomad AFR AF: 0.118

Gnomad AMI AF: 0.447

Gnomad AMR AF: 0.292

Gnomad ASJ AF: 0.463

Gnomad EAS AF: 0.261

Gnomad SAS AF: 0.324

Gnomad FIN AF: 0.347

Gnomad MID AF: 0.484

Gnomad NFE AF: 0.439

Gnomad OTH AF: 0.369

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

GnomAD4 genome AF: 0.320 AC: 48713 AN: 152098 Hom.: 9264 Cov.: 32 AF XY: 0.314 AC XY: 23352 AN XY: 74358

African (AFR) AF: 0.118 AC: 4893 AN: 41522

American (AMR) AF: 0.292 AC: 4461 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.463 AC: 1606 AN: 3472

East Asian (EAS) AF: 0.261 AC: 1345 AN: 5162

South Asian (SAS) AF: 0.326 AC: 1567 AN: 4814

European-Finnish (FIN) AF: 0.347 AC: 3667 AN: 10582

Middle Eastern (MID) AF: 0.490 AC: 143 AN: 292

European-Non Finnish (NFE) AF: 0.439 AC: 29854 AN: 67948

Other (OTH) AF: 0.364 AC: 770 AN: 2114

Alfa AF: 0.373 Hom.: 1437

Bravo AF: 0.308

Asia WGS AF: 0.251 AC: 874 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.67
CADD	Benign	5.1
DANN	Benign	0.77
PhyloP100		0.060
PromoterAI		-0.0081	Neutral
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: rs2517064; hg19: chr8-17015437;