rs9693444

Variant names:

• chr8-29652100-A-C
• rs9693444
• ENST00000771089.1:n.142+14112A>C

Your query was ambiguous. Multiple possible variants found:

• chr8-29652100-A-C
• chr8-29652100-A-T

Variant summary

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

The ENST00000771089.1(ENSG00000300341):​n.142+14112A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.664 in 151,988 control chromosomes in the GnomAD database, including 33,699 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 0.66 (33699 hom., cov: 31)
• Consequence: ENSG00000300341 ENST00000771089.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02
• Publications: 77 publications found

Genes affected

ENSG00000300341 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.762 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000771089.1. 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
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000300341	ENST00000771089.1		n.142+14112A>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.664 AC: 100788 AN: 151868 Hom.: 33685 Cov.: 31

Gnomad AFR AF: 0.621

Gnomad AMI AF: 0.691

Gnomad AMR AF: 0.694

Gnomad ASJ AF: 0.639

Gnomad EAS AF: 0.694

Gnomad SAS AF: 0.784

Gnomad FIN AF: 0.647

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.676

Gnomad OTH AF: 0.650

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

GnomAD4 genome AF: 0.664 AC: 100853 AN: 151988 Hom.: 33699 Cov.: 31 AF XY: 0.666 AC XY: 49481 AN XY: 74274

African (AFR) AF: 0.621 AC: 25728 AN: 41428

American (AMR) AF: 0.693 AC: 10599 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.639 AC: 2218 AN: 3470

East Asian (EAS) AF: 0.695 AC: 3586 AN: 5162

South Asian (SAS) AF: 0.783 AC: 3771 AN: 4814

European-Finnish (FIN) AF: 0.647 AC: 6828 AN: 10550

Middle Eastern (MID) AF: 0.541 AC: 159 AN: 294

European-Non Finnish (NFE) AF: 0.676 AC: 45963 AN: 67968

Other (OTH) AF: 0.651 AC: 1371 AN: 2106

Alfa AF: 0.667 Hom.: 70651

Bravo AF: 0.659

Asia WGS AF: 0.728 AC: 2534 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.022
DANN	Benign	0.68
PhyloP100		-1.0

Splicing

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

Other links and lift over

dbSNP: rs9693444; hg19: chr8-29509616;