rs9965170

Variant names:

• chr18-47261903-G-A
• rs9965170

Your query was ambiguous. Multiple possible variants found:

• chr18-47261903-G-A
• chr18-47261903-G-C
• chr18-47261903-G-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 0.371 in 148,758 control chromosomes in the GnomAD database, including 10,817 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 0.37 (10817 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.98

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.424 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: 0.371 AC: 55118 AN: 148688 Hom.: 10814 Cov.: 27

Gnomad AFR AF: 0.248

Gnomad AMI AF: 0.613

Gnomad AMR AF: 0.388

Gnomad ASJ AF: 0.465

Gnomad EAS AF: 0.156

Gnomad SAS AF: 0.435

Gnomad FIN AF: 0.473

Gnomad MID AF: 0.467

Gnomad NFE AF: 0.428

Gnomad OTH AF: 0.385

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

GnomAD4 genome AF: 0.371 AC: 55117 AN: 148758 Hom.: 10817 Cov.: 27 AF XY: 0.372 AC XY: 26911 AN XY: 72330

Gnomad4 AFR AF: 0.248

Gnomad4 AMR AF: 0.388

Gnomad4 ASJ AF: 0.465

Gnomad4 EAS AF: 0.156

Gnomad4 SAS AF: 0.434

Gnomad4 FIN AF: 0.473

Gnomad4 NFE AF: 0.428

Gnomad4 OTH AF: 0.384

Alfa AF: 0.297 Hom.: 1144

Bravo AF: 0.357

Asia WGS AF: 0.263 AC: 917 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.037
DANN	Benign	0.80

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9965170; hg19: chr18-44788274;