rs10955282

Variant names:

• chr8-102164718-G-A
• rs10955282
• ENST00000849392.1:n.116-11154G>A

Your query was ambiguous. Multiple possible variants found:

• chr8-102164718-G-A
• chr8-102164718-G-C
• chr8-102164718-G-T

Variant summary

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

The ENST00000849392.1(ENSG00000310378):​n.116-11154G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.468 in 151,860 control chromosomes in the GnomAD database, including 16,987 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 0.47 (16987 hom., cov: 31)
• Consequence: ENSG00000310378 ENST00000849392.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.21
• Publications: 3 publications found

Genes affected

ENSG00000310378 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.557 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000849392.1. 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
	ENSG00000310378	ENST00000849392.1		n.116-11154G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.468 AC: 71022 AN: 151742 Hom.: 16955 Cov.: 31

Gnomad AFR AF: 0.563

Gnomad AMI AF: 0.470

Gnomad AMR AF: 0.463

Gnomad ASJ AF: 0.448

Gnomad EAS AF: 0.468

Gnomad SAS AF: 0.468

Gnomad FIN AF: 0.418

Gnomad MID AF: 0.509

Gnomad NFE AF: 0.420

Gnomad OTH AF: 0.477

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

GnomAD4 genome AF: 0.468 AC: 71107 AN: 151860 Hom.: 16987 Cov.: 31 AF XY: 0.470 AC XY: 34850 AN XY: 74208

African (AFR) AF: 0.563 AC: 23302 AN: 41408

American (AMR) AF: 0.463 AC: 7072 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.448 AC: 1553 AN: 3466

East Asian (EAS) AF: 0.467 AC: 2413 AN: 5162

South Asian (SAS) AF: 0.469 AC: 2259 AN: 4812

European-Finnish (FIN) AF: 0.418 AC: 4397 AN: 10520

Middle Eastern (MID) AF: 0.517 AC: 152 AN: 294

European-Non Finnish (NFE) AF: 0.420 AC: 28515 AN: 67906

Other (OTH) AF: 0.482 AC: 1016 AN: 2110

Alfa AF: 0.432 Hom.: 41443

Bravo AF: 0.476

Asia WGS AF: 0.501 AC: 1736 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.043
DANN	Benign	0.23
PhyloP100		-2.2

Splicing

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

Other links and lift over

dbSNP: rs10955282; hg19: chr8-103176946;