chr8-127611394-G-T

Variant names:

• chr8-127611394-G-T
• rs7005795
• ENST00000650971.1:n.390-18374G>T

Variant summary

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

The ENST00000650971.1(ENSG00000286266):​n.390-18374G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.491 in 151,586 control chromosomes in the GnomAD database, including 18,507 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 0.49 (18507 hom., cov: 30)
• Consequence: ENSG00000286266 ENST00000650971.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.600
• Publications: 4 publications found

Genes affected

ENSG00000286266 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.715 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000286266	ENST00000650971.1	n.390-18374G>T		intron_variant	Intron 2 of 4

Frequencies

GnomAD3 genomes AF: 0.491 AC: 74376 AN: 151470 Hom.: 18488 Cov.: 30

Gnomad AFR AF: 0.505

Gnomad AMI AF: 0.542

Gnomad AMR AF: 0.519

Gnomad ASJ AF: 0.525

Gnomad EAS AF: 0.735

Gnomad SAS AF: 0.608

Gnomad FIN AF: 0.506

Gnomad MID AF: 0.573

Gnomad NFE AF: 0.445

Gnomad OTH AF: 0.474

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

GnomAD4 genome AF: 0.491 AC: 74445 AN: 151586 Hom.: 18507 Cov.: 30 AF XY: 0.501 AC XY: 37082 AN XY: 74016

African (AFR) AF: 0.505 AC: 20835 AN: 41248

American (AMR) AF: 0.519 AC: 7908 AN: 15228

Ashkenazi Jewish (ASJ) AF: 0.525 AC: 1821 AN: 3468

East Asian (EAS) AF: 0.735 AC: 3786 AN: 5154

South Asian (SAS) AF: 0.609 AC: 2921 AN: 4798

European-Finnish (FIN) AF: 0.506 AC: 5297 AN: 10460

Middle Eastern (MID) AF: 0.582 AC: 171 AN: 294

European-Non Finnish (NFE) AF: 0.445 AC: 30200 AN: 67922

Other (OTH) AF: 0.481 AC: 1012 AN: 2102

Alfa AF: 0.459 Hom.: 42593

Bravo AF: 0.489

Asia WGS AF: 0.665 AC: 2313 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.064
DANN	Benign	0.49
PhyloP100		-0.60

Splicing

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

Other links and lift over

dbSNP: rs7005795; hg19: chr8-128623639;