2-184612950-A-G

Position:

• chr2-184612950-A-G

Variant summary

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

The NM_194250.2(ZNF804A):​c.111+13880A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.399 in 152,068 control chromosomes in the GnomAD database, including 12,468 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 0.40 (12468 hom., cov: 33)
• Consequence: ZNF804A NM_194250.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.541

Genes affected

ZNF804A (HGNC:21711): (zinc finger protein 804A) The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.449 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ZNF804A	NM_194250.2	c.111+13880A>G		intron_variant		ENST00000302277.7	NP_919226.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ZNF804A	ENST00000302277.7	c.111+13880A>G		intron_variant		1	NM_194250.2	ENSP00000303252	P1

Frequencies

GnomAD3 genomes AF: 0.399 AC: 60660 AN: 151950 Hom.: 12455 Cov.: 33

Gnomad AFR AF: 0.455

Gnomad AMI AF: 0.464

Gnomad AMR AF: 0.296

Gnomad ASJ AF: 0.408

Gnomad EAS AF: 0.163

Gnomad SAS AF: 0.394

Gnomad FIN AF: 0.394

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.406

Gnomad OTH AF: 0.402

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

GnomAD4 genome AF: 0.399 AC: 60707 AN: 152068 Hom.: 12468 Cov.: 33 AF XY: 0.396 AC XY: 29443 AN XY: 74342

Gnomad4 AFR AF: 0.455

Gnomad4 AMR AF: 0.296

Gnomad4 ASJ AF: 0.408

Gnomad4 EAS AF: 0.163

Gnomad4 SAS AF: 0.396

Gnomad4 FIN AF: 0.394

Gnomad4 NFE AF: 0.406

Gnomad4 OTH AF: 0.399

Alfa AF: 0.417 Hom.: 1700

Bravo AF: 0.391

Asia WGS AF: 0.269 AC: 937 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.99
DANN	Benign	0.62

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: rs13393273; hg19: chr2-185477677;