ENST00000430545.4:n.393+19764A>G

Variant names:

• chr9-17068805-A-G
• rs369822
• ENST00000430545.4:n.393+19764A>G

Variant summary

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

The ENST00000430545.4(ENSG00000237153):​n.393+19764A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.436 in 152,046 control chromosomes in the GnomAD database, including 14,825 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 0.44 (14825 hom., cov: 32)
• Consequence: ENSG00000237153 ENST00000430545.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.111
• Publications: 2 publications found

Genes affected

ENSG00000237153 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.488 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000430545.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000237153	ENST00000430545.4	TSL:5	n.393+19764A>G		intron	N/A
	ENSG00000237153	ENST00000649137.2		n.1713+19764A>G		intron	N/A
	ENSG00000237153	ENST00000649821.1		n.179+15805A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.436 AC: 66171 AN: 151928 Hom.: 14798 Cov.: 32

Gnomad AFR AF: 0.493

Gnomad AMI AF: 0.466

Gnomad AMR AF: 0.363

Gnomad ASJ AF: 0.555

Gnomad EAS AF: 0.310

Gnomad SAS AF: 0.224

Gnomad FIN AF: 0.311

Gnomad MID AF: 0.456

Gnomad NFE AF: 0.454

Gnomad OTH AF: 0.443

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

GnomAD4 genome AF: 0.436 AC: 66243 AN: 152046 Hom.: 14825 Cov.: 32 AF XY: 0.421 AC XY: 31269 AN XY: 74346

African (AFR) AF: 0.493 AC: 20448 AN: 41456

American (AMR) AF: 0.362 AC: 5530 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.555 AC: 1926 AN: 3468

East Asian (EAS) AF: 0.309 AC: 1597 AN: 5176

South Asian (SAS) AF: 0.226 AC: 1089 AN: 4818

European-Finnish (FIN) AF: 0.311 AC: 3287 AN: 10586

Middle Eastern (MID) AF: 0.459 AC: 135 AN: 294

European-Non Finnish (NFE) AF: 0.454 AC: 30877 AN: 67962

Other (OTH) AF: 0.442 AC: 929 AN: 2102

Alfa AF: 0.443 Hom.: 5003

Bravo AF: 0.447

Asia WGS AF: 0.294 AC: 1022 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.7
DANN	Benign	0.31
PhyloP100		0.11

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs369822; hg19: chr9-17068803;