rs17156191

Variant names:

• chr10-44363899-C-A
• rs17156191

Your query was ambiguous. Multiple possible variants found:

• chr10-44363899-C-A
• chr10-44363899-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 0.163 in 152,260 control chromosomes in the GnomAD database, including 2,179 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 0.16 (2179 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0510
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.341 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: 0.163 AC: 24738 AN: 152142 Hom.: 2165 Cov.: 34

Gnomad AFR AF: 0.157

Gnomad AMI AF: 0.145

Gnomad AMR AF: 0.160

Gnomad ASJ AF: 0.209

Gnomad EAS AF: 0.354

Gnomad SAS AF: 0.229

Gnomad FIN AF: 0.140

Gnomad MID AF: 0.259

Gnomad NFE AF: 0.148

Gnomad OTH AF: 0.171

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

GnomAD4 genome AF: 0.163 AC: 24789 AN: 152260 Hom.: 2179 Cov.: 34 AF XY: 0.164 AC XY: 12208 AN XY: 74458

African (AFR) AF: 0.157 AC: 6542 AN: 41548

American (AMR) AF: 0.160 AC: 2449 AN: 15304

Ashkenazi Jewish (ASJ) AF: 0.209 AC: 724 AN: 3470

East Asian (EAS) AF: 0.354 AC: 1832 AN: 5172

South Asian (SAS) AF: 0.229 AC: 1106 AN: 4828

European-Finnish (FIN) AF: 0.140 AC: 1491 AN: 10614

Middle Eastern (MID) AF: 0.262 AC: 77 AN: 294

European-Non Finnish (NFE) AF: 0.148 AC: 10055 AN: 68008

Other (OTH) AF: 0.181 AC: 381 AN: 2110

Alfa AF: 0.157 Hom.: 3338

Bravo AF: 0.163

Asia WGS AF: 0.310 AC: 1077 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	2.2
DANN	Benign	0.67
PhyloP100		0.051
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs17156191; hg19: chr10-44859347;