8-81506763-G-C

Variant names:

• chr8-81506763-G-C
• rs2200477
• ENST00000524085.2:n.434+8711G>C

Variant summary

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

The ENST00000832857.1(ENSG00000253374):​n.327-14944G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.444 in 151,984 control chromosomes in the GnomAD database, including 18,944 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 (18944 hom., cov: 32)
• Consequence: ENSG00000253374 ENST00000832857.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.294
• Publications: 1 publications found

Genes affected

ENSG00000253374 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.76).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.791 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000832857.1. 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
	ENSG00000253374	ENST00000524085.2	TSL:5	n.434+8711G>C		intron	N/A
	ENSG00000253374	ENST00000832857.1		n.327-14944G>C		intron	N/A
	ENSG00000253374	ENST00000832858.1		n.309-14944G>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.444 AC: 67427 AN: 151866 Hom.: 18885 Cov.: 32

Gnomad AFR AF: 0.798

Gnomad AMI AF: 0.343

Gnomad AMR AF: 0.428

Gnomad ASJ AF: 0.241

Gnomad EAS AF: 0.128

Gnomad SAS AF: 0.382

Gnomad FIN AF: 0.282

Gnomad MID AF: 0.361

Gnomad NFE AF: 0.299

Gnomad OTH AF: 0.421

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

GnomAD4 genome AF: 0.444 AC: 67550 AN: 151984 Hom.: 18944 Cov.: 32 AF XY: 0.440 AC XY: 32702 AN XY: 74276

African (AFR) AF: 0.798 AC: 33110 AN: 41480

American (AMR) AF: 0.428 AC: 6523 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.241 AC: 834 AN: 3466

East Asian (EAS) AF: 0.128 AC: 661 AN: 5166

South Asian (SAS) AF: 0.384 AC: 1847 AN: 4816

European-Finnish (FIN) AF: 0.282 AC: 2971 AN: 10548

Middle Eastern (MID) AF: 0.361 AC: 106 AN: 294

European-Non Finnish (NFE) AF: 0.299 AC: 20299 AN: 67946

Other (OTH) AF: 0.422 AC: 888 AN: 2104

Alfa AF: 0.371 Hom.: 1523

Bravo AF: 0.468

Asia WGS AF: 0.306 AC: 1064 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.76
CADD	Benign	0.46
DANN	Benign	0.49
PhyloP100		-0.29

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: rs2200477;

hg19: chr8-82418998;