3-191728221-CTA-CTATA

Variant names:

• chr3-191728221-C-CTA
• rs2308237
• ENST00000819945.1:n.348+15614_348+15615insTA

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

The ENST00000819945.1(ENSG00000306648):​n.348+15614_348+15615insTA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.30 (7125 hom., cov: 0)
• Consequence: ENSG00000306648 ENST00000819945.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.335
• Publications: 3 publications found

Genes affected

ENSG00000306648 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.396 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000819945.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000306648	ENST00000819945.1		n.348+15614_348+15615insTA		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.300 AC: 45498 AN: 151656 Hom.: 7114 Cov.: 0

Gnomad AFR AF: 0.202

Gnomad AMI AF: 0.435

Gnomad AMR AF: 0.276

Gnomad ASJ AF: 0.350

Gnomad EAS AF: 0.410

Gnomad SAS AF: 0.394

Gnomad FIN AF: 0.398

Gnomad MID AF: 0.222

Gnomad NFE AF: 0.331

Gnomad OTH AF: 0.281

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

GnomAD4 genome AF: 0.300 AC: 45527 AN: 151774 Hom.: 7125 Cov.: 0 AF XY: 0.306 AC XY: 22725 AN XY: 74162

African (AFR) AF: 0.202 AC: 8353 AN: 41426

American (AMR) AF: 0.276 AC: 4210 AN: 15230

Ashkenazi Jewish (ASJ) AF: 0.350 AC: 1213 AN: 3462

East Asian (EAS) AF: 0.411 AC: 2113 AN: 5144

South Asian (SAS) AF: 0.394 AC: 1897 AN: 4812

European-Finnish (FIN) AF: 0.398 AC: 4181 AN: 10500

Middle Eastern (MID) AF: 0.214 AC: 63 AN: 294

European-Non Finnish (NFE) AF: 0.331 AC: 22504 AN: 67892

Other (OTH) AF: 0.284 AC: 598 AN: 2106

Alfa AF: 0.315 Hom.: 797

Asia WGS AF: 0.411 AC: 1423 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.34

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs2308237;

hg19: chr3-191446010;