rs17175227

Variant names:

• chr14-70035333-G-A
• rs17175227

Your query was ambiguous. Multiple possible variants found:

• chr14-70035333-G-A
• chr14-70035333-G-C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BS1 BS2

The variant allele was found at a frequency of 0.0216 in 152,274 control chromosomes in the GnomAD database, including 55 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 0.022 (55 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0540
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BS1: Variant frequency is greater than expected in population eas. GnomAd4 allele frequency = 0.0216 (3284/152274) while in subpopulation EAS AF = 0.0473 (245/5180). AF 95% confidence interval is 0.0424. There are 55 homozygotes in GnomAd4. There are 1691 alleles in the male GnomAd4 subpopulation. Median coverage is 32. This position passed quality control check.
• BS2: High Homozygotes in GnomAd4 at 55 gene

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: 0.0215 AC: 3278 AN: 152156 Hom.: 53 Cov.: 32

Gnomad AFR AF: 0.0259

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0139

Gnomad ASJ AF: 0.0199

Gnomad EAS AF: 0.0472

Gnomad SAS AF: 0.0112

Gnomad FIN AF: 0.0418

Gnomad MID AF: 0.0222

Gnomad NFE AF: 0.0166

Gnomad OTH AF: 0.0201

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

GnomAD4 genome AF: 0.0216 AC: 3284 AN: 152274 Hom.: 55 Cov.: 32 AF XY: 0.0227 AC XY: 1691 AN XY: 74452

African (AFR) AF: 0.0260 AC: 1081 AN: 41560

American (AMR) AF: 0.0139 AC: 212 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.0199 AC: 69 AN: 3472

East Asian (EAS) AF: 0.0473 AC: 245 AN: 5180

South Asian (SAS) AF: 0.0112 AC: 54 AN: 4820

European-Finnish (FIN) AF: 0.0418 AC: 443 AN: 10598

Middle Eastern (MID) AF: 0.0204 AC: 6 AN: 294

European-Non Finnish (NFE) AF: 0.0166 AC: 1131 AN: 68024

Other (OTH) AF: 0.0198 AC: 42 AN: 2116

Alfa AF: 0.0196 Hom.: 74

Bravo AF: 0.0194

Asia WGS AF: 0.0280 AC: 98 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.3
DANN	Benign	0.49
PhyloP100		0.054

Splicing

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

Other links and lift over

dbSNP: rs17175227; hg19: chr14-70502050;