8-38611785-A-G

Variant names:

• chr8-38611785-A-G
• rs7832232
• ENST00000736924.1:n.100-8799T>C

Variant summary

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

The ENST00000736924.1(ENSG00000296158):​n.100-8799T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.438 in 151,898 control chromosomes in the GnomAD database, including 14,996 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 (14996 hom., cov: 32)
• Consequence: ENSG00000296158 ENST00000736924.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.448
• Publications: 19 publications found

Genes affected

ENSG00000296158 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.493 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000736924.1. 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
	ENSG00000296158	ENST00000736924.1		n.100-8799T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.438 AC: 66426 AN: 151780 Hom.: 14985 Cov.: 32

Gnomad AFR AF: 0.340

Gnomad AMI AF: 0.533

Gnomad AMR AF: 0.394

Gnomad ASJ AF: 0.425

Gnomad EAS AF: 0.509

Gnomad SAS AF: 0.328

Gnomad FIN AF: 0.520

Gnomad MID AF: 0.347

Gnomad NFE AF: 0.497

Gnomad OTH AF: 0.421

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

GnomAD4 genome AF: 0.438 AC: 66459 AN: 151898 Hom.: 14996 Cov.: 32 AF XY: 0.436 AC XY: 32374 AN XY: 74238

African (AFR) AF: 0.340 AC: 14073 AN: 41428

American (AMR) AF: 0.394 AC: 6014 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.425 AC: 1474 AN: 3472

East Asian (EAS) AF: 0.509 AC: 2631 AN: 5166

South Asian (SAS) AF: 0.329 AC: 1580 AN: 4802

European-Finnish (FIN) AF: 0.520 AC: 5467 AN: 10520

Middle Eastern (MID) AF: 0.353 AC: 103 AN: 292

European-Non Finnish (NFE) AF: 0.497 AC: 33738 AN: 67926

Other (OTH) AF: 0.424 AC: 893 AN: 2106

Alfa AF: 0.469 Hom.: 62047

Bravo AF: 0.424

Asia WGS AF: 0.399 AC: 1390 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	5.3
DANN	Benign	0.40
PhyloP100		0.45

Splicing

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

Other links and lift over

dbSNP: rs7832232; hg19: chr8-38469303;