rs10505127

Variant names:

• chr8-109041254-C-A
• rs10505127
• ENST00000522244.1:n.264+2423G>T

Your query was ambiguous. Multiple possible variants found:

• chr8-109041254-C-A
• chr8-109041254-C-G

Variant summary

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

The ENST00000522244.1(ENSG00000253796):​n.264+2423G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.615 in 152,030 control chromosomes in the GnomAD database, including 29,168 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 0.61 (29168 hom., cov: 32)
• Consequence: ENSG00000253796 ENST00000522244.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0700
• Publications: 1 publications found

Genes affected

ENSG00000253796 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.698 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000522244.1. 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
	ENSG00000253796	ENST00000522244.1	TSL:3	n.264+2423G>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.615 AC: 93385 AN: 151912 Hom.: 29132 Cov.: 32

Gnomad AFR AF: 0.687

Gnomad AMI AF: 0.729

Gnomad AMR AF: 0.709

Gnomad ASJ AF: 0.528

Gnomad EAS AF: 0.715

Gnomad SAS AF: 0.606

Gnomad FIN AF: 0.536

Gnomad MID AF: 0.418

Gnomad NFE AF: 0.559

Gnomad OTH AF: 0.605

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

GnomAD4 genome AF: 0.615 AC: 93476 AN: 152030 Hom.: 29168 Cov.: 32 AF XY: 0.616 AC XY: 45796 AN XY: 74310

African (AFR) AF: 0.688 AC: 28515 AN: 41474

American (AMR) AF: 0.709 AC: 10828 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.528 AC: 1832 AN: 3468

East Asian (EAS) AF: 0.717 AC: 3699 AN: 5162

South Asian (SAS) AF: 0.604 AC: 2912 AN: 4818

European-Finnish (FIN) AF: 0.536 AC: 5669 AN: 10570

Middle Eastern (MID) AF: 0.412 AC: 121 AN: 294

European-Non Finnish (NFE) AF: 0.559 AC: 37966 AN: 67956

Other (OTH) AF: 0.603 AC: 1272 AN: 2110

Alfa AF: 0.586 Hom.: 3283

Bravo AF: 0.634

Asia WGS AF: 0.668 AC: 2323 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.53
DANN	Benign	0.18
PhyloP100		-0.070

Splicing

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

Other links and lift over

dbSNP: rs10505127; hg19: chr8-110053483;