8-128616936-A-G

Variant names:

• chr8-128616936-A-G
• rs6991170
• ENST00000834545.1:n.402+96T>C

Variant summary

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

The ENST00000834545.1(ENSG00000308486):​n.402+96T>C variant causes a intron change. The variant allele was found at a frequency of 0.311 in 152,004 control chromosomes in the GnomAD database, including 7,414 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 0.31 (7414 hom., cov: 31)
• Consequence: ENSG00000308486 ENST00000834545.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 1 publications found

Genes affected

ENSG00000308486 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.345 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000834545.1. 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
	ENSG00000308486	ENST00000834545.1		n.402+96T>C		intron	N/A
	ENSG00000308486	ENST00000834546.1		n.246+96T>C		intron	N/A
	ENSG00000308486	ENST00000834547.1		n.244+96T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.311 AC: 47185 AN: 151886 Hom.: 7401 Cov.: 31

Gnomad AFR AF: 0.349

Gnomad AMI AF: 0.395

Gnomad AMR AF: 0.275

Gnomad ASJ AF: 0.328

Gnomad EAS AF: 0.215

Gnomad SAS AF: 0.272

Gnomad FIN AF: 0.232

Gnomad MID AF: 0.351

Gnomad NFE AF: 0.315

Gnomad OTH AF: 0.327

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

GnomAD4 genome AF: 0.311 AC: 47226 AN: 152004 Hom.: 7414 Cov.: 31 AF XY: 0.308 AC XY: 22853 AN XY: 74310

African (AFR) AF: 0.349 AC: 14473 AN: 41430

American (AMR) AF: 0.274 AC: 4191 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.328 AC: 1136 AN: 3468

East Asian (EAS) AF: 0.216 AC: 1115 AN: 5166

South Asian (SAS) AF: 0.273 AC: 1315 AN: 4812

European-Finnish (FIN) AF: 0.232 AC: 2454 AN: 10572

Middle Eastern (MID) AF: 0.354 AC: 104 AN: 294

European-Non Finnish (NFE) AF: 0.315 AC: 21385 AN: 67956

Other (OTH) AF: 0.328 AC: 694 AN: 2114

Alfa AF: 0.327 Hom.: 1017

Bravo AF: 0.314

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.1
DANN	Benign	0.33

Splicing

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

Other links and lift over

dbSNP: rs6991170; hg19: chr8-129629182;