rs17695937

Variant names:

• chr2-97711412-A-G
• rs17695937

Your query was ambiguous. Multiple possible variants found:

• chr2-97711412-A-G
• chr2-97711412-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.188 in 152,198 control chromosomes in the GnomAD database, including 2,928 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 0.19 (2928 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.667

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.217 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: 0.188 AC: 28567 AN: 152080 Hom.: 2930 Cov.: 32

Gnomad AFR AF: 0.160

Gnomad AMI AF: 0.316

Gnomad AMR AF: 0.204

Gnomad ASJ AF: 0.221

Gnomad EAS AF: 0.102

Gnomad SAS AF: 0.0756

Gnomad FIN AF: 0.121

Gnomad MID AF: 0.304

Gnomad NFE AF: 0.220

Gnomad OTH AF: 0.240

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

GnomAD4 genome AF: 0.188 AC: 28570 AN: 152198 Hom.: 2928 Cov.: 32 AF XY: 0.182 AC XY: 13540 AN XY: 74410

Gnomad4 AFR AF: 0.160

Gnomad4 AMR AF: 0.204

Gnomad4 ASJ AF: 0.221

Gnomad4 EAS AF: 0.102

Gnomad4 SAS AF: 0.0754

Gnomad4 FIN AF: 0.121

Gnomad4 NFE AF: 0.220

Gnomad4 OTH AF: 0.237

Alfa AF: 0.212 Hom.: 5993

Bravo AF: 0.193

Asia WGS AF: 0.137 AC: 478 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	6.9
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17695937; hg19: chr2-98327875;