rs10503852

Variant names:

• chr8-29613159-T-C
• rs10503852
• ENST00000811158.1:n.135-83A>G

Your query was ambiguous. Multiple possible variants found:

• chr8-29613159-T-C
• chr8-29613159-T-G

Variant summary

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

The ENST00000811158.1(ENSG00000305465):​n.135-83A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.229 in 152,160 control chromosomes in the GnomAD database, including 4,187 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 0.23 (4187 hom., cov: 33)
• Consequence: ENSG00000305465 ENST00000811158.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.100
• Publications: 2 publications found

Genes affected

ENSG00000305465 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.241 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000811158.1. 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
	ENSG00000305465	ENST00000811158.1		n.135-83A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.229 AC: 34782 AN: 152042 Hom.: 4180 Cov.: 33

Gnomad AFR AF: 0.245

Gnomad AMI AF: 0.270

Gnomad AMR AF: 0.211

Gnomad ASJ AF: 0.299

Gnomad EAS AF: 0.0269

Gnomad SAS AF: 0.117

Gnomad FIN AF: 0.228

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.242

Gnomad OTH AF: 0.241

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

GnomAD4 genome AF: 0.229 AC: 34815 AN: 152160 Hom.: 4187 Cov.: 33 AF XY: 0.223 AC XY: 16599 AN XY: 74370

African (AFR) AF: 0.245 AC: 10177 AN: 41508

American (AMR) AF: 0.211 AC: 3232 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.299 AC: 1036 AN: 3470

East Asian (EAS) AF: 0.0268 AC: 139 AN: 5184

South Asian (SAS) AF: 0.117 AC: 563 AN: 4812

European-Finnish (FIN) AF: 0.228 AC: 2416 AN: 10586

Middle Eastern (MID) AF: 0.279 AC: 82 AN: 294

European-Non Finnish (NFE) AF: 0.242 AC: 16422 AN: 67996

Other (OTH) AF: 0.238 AC: 503 AN: 2112

Alfa AF: 0.236 Hom.: 2478

Bravo AF: 0.233

Asia WGS AF: 0.0820 AC: 287 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.7
DANN	Benign	0.54
PhyloP100		-0.10

Splicing

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

Other links and lift over

dbSNP: rs10503852; hg19: chr8-29470675;