6-157654527-C-T

Position:

• chr6-157654527-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_024630.3(ZDHHC14):​c.1068+900C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0302 in 152,112 control chromosomes in the GnomAD database, including 157 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 0.030 (157 hom., cov: 31)
• Consequence: ZDHHC14 NM_024630.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0660

Genes affected

ZDHHC14 (HGNC:20341): (zinc finger DHHC-type palmitoyltransferase 14) Enables palmitoyltransferase activity. Involved in peptidyl-L-cysteine S-palmitoylation. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.08 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ZDHHC14	NM_024630.3	c.1068+900C>T		intron_variant		ENST00000359775.10	NP_078906.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ZDHHC14	ENST00000359775.10	c.1068+900C>T		intron_variant		1	NM_024630.3	ENSP00000352821	A1

Frequencies

GnomAD3 genomes AF: 0.0301 AC: 4570 AN: 151994 Hom.: 152 Cov.: 31

Gnomad AFR AF: 0.0817

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0130

Gnomad ASJ AF: 0.00115

Gnomad EAS AF: 0.000387

Gnomad SAS AF: 0.00145

Gnomad FIN AF: 0.0326

Gnomad MID AF: 0.00633

Gnomad NFE AF: 0.00838

Gnomad OTH AF: 0.0292

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

GnomAD4 genome AF: 0.0302 AC: 4601 AN: 152112 Hom.: 157 Cov.: 31 AF XY: 0.0309 AC XY: 2297 AN XY: 74376

Gnomad4 AFR AF: 0.0823

Gnomad4 AMR AF: 0.0129

Gnomad4 ASJ AF: 0.00115

Gnomad4 EAS AF: 0.000387

Gnomad4 SAS AF: 0.00124

Gnomad4 FIN AF: 0.0326

Gnomad4 NFE AF: 0.00838

Gnomad4 OTH AF: 0.0289

Alfa AF: 0.0251 Hom.: 17

Bravo AF: 0.0304

Asia WGS AF: 0.0120 AC: 42 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.0
DANN	Benign	0.41

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

Publications

LitVar

Other links and lift over

dbSNP: rs891460; hg19: chr6-158075559;