rs10755938

Variant names:

• chr8-133141630-C-A
• rs10755938

Your query was ambiguous. Multiple possible variants found:

• chr8-133141630-C-A
• chr8-133141630-C-T

Variant summary

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

The variant allele was found at a frequency of 0.357 in 152,110 control chromosomes in the GnomAD database, including 10,643 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 0.36 (10643 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.08
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.446 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

Frequencies

GnomAD3 genomes AF: 0.357 AC: 54263 AN: 151992 Hom.: 10645 Cov.: 33

Gnomad AFR AF: 0.212

Gnomad AMI AF: 0.365

Gnomad AMR AF: 0.391

Gnomad ASJ AF: 0.495

Gnomad EAS AF: 0.175

Gnomad SAS AF: 0.296

Gnomad FIN AF: 0.340

Gnomad MID AF: 0.456

Gnomad NFE AF: 0.450

Gnomad OTH AF: 0.398

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

GnomAD4 genome AF: 0.357 AC: 54261 AN: 152110 Hom.: 10643 Cov.: 33 AF XY: 0.349 AC XY: 25975 AN XY: 74346

African (AFR) AF: 0.212 AC: 8787 AN: 41508

American (AMR) AF: 0.390 AC: 5960 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.495 AC: 1715 AN: 3468

East Asian (EAS) AF: 0.175 AC: 904 AN: 5170

South Asian (SAS) AF: 0.296 AC: 1429 AN: 4824

European-Finnish (FIN) AF: 0.340 AC: 3592 AN: 10566

Middle Eastern (MID) AF: 0.449 AC: 132 AN: 294

European-Non Finnish (NFE) AF: 0.450 AC: 30582 AN: 67984

Other (OTH) AF: 0.392 AC: 828 AN: 2110

Alfa AF: 0.375 Hom.: 1717

Bravo AF: 0.356

Asia WGS AF: 0.204 AC: 710 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.14
DANN	Benign	0.35
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs10755938; hg19: chr8-134153874;