chr9-87620879-A-C

Position:

• chr9-87620879-A-C

Variant summary

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

The NM_004938.4(DAPK1):​c.284+15704A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.248 in 151,992 control chromosomes in the GnomAD database, including 4,957 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 0.25 (4957 hom., cov: 32)
• Consequence: DAPK1 NM_004938.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.274

Genes affected

DAPK1 (HGNC:2674): (death associated protein kinase 1) Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.57).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.357 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DAPK1	NM_004938.4	c.284+15704A>C		intron_variant		ENST00000408954.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DAPK1	ENST00000408954.8	c.284+15704A>C		intron_variant		2	NM_004938.4	P1

Frequencies

GnomAD3 genomes AF: 0.248 AC: 37666 AN: 151874 Hom.: 4930 Cov.: 32

Gnomad AFR AF: 0.317

Gnomad AMI AF: 0.297

Gnomad AMR AF: 0.212

Gnomad ASJ AF: 0.166

Gnomad EAS AF: 0.356

Gnomad SAS AF: 0.370

Gnomad FIN AF: 0.190

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.210

Gnomad OTH AF: 0.233

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

GnomAD4 genome AF: 0.248 AC: 37731 AN: 151992 Hom.: 4957 Cov.: 32 AF XY: 0.249 AC XY: 18487 AN XY: 74296

Gnomad4 AFR AF: 0.317

Gnomad4 AMR AF: 0.212

Gnomad4 ASJ AF: 0.166

Gnomad4 EAS AF: 0.356

Gnomad4 SAS AF: 0.371

Gnomad4 FIN AF: 0.190

Gnomad4 NFE AF: 0.210

Gnomad4 OTH AF: 0.232

Alfa AF: 0.219 Hom.: 5875

Bravo AF: 0.250

Asia WGS AF: 0.342 AC: 1189 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.57
CADD	Benign	15
DANN	Benign	0.58

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: rs11141915; hg19: chr9-90235794;