rs715969

Variant names:

• chr8-131461616-A-C
• rs715969

Your query was ambiguous. Multiple possible variants found:

• chr8-131461616-A-C
• chr8-131461616-A-G
• chr8-131461616-A-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 0.122 in 152,214 control chromosomes in the GnomAD database, including 1,306 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 0.12 (1306 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.01
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.172 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: 0.122 AC: 18603 AN: 152098 Hom.: 1304 Cov.: 32

Gnomad AFR AF: 0.155

Gnomad AMI AF: 0.0318

Gnomad AMR AF: 0.177

Gnomad ASJ AF: 0.137

Gnomad EAS AF: 0.153

Gnomad SAS AF: 0.0917

Gnomad FIN AF: 0.0760

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.0967

Gnomad OTH AF: 0.146

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

GnomAD4 genome AF: 0.122 AC: 18623 AN: 152214 Hom.: 1306 Cov.: 32 AF XY: 0.124 AC XY: 9208 AN XY: 74412

African (AFR) AF: 0.155 AC: 6436 AN: 41526

American (AMR) AF: 0.178 AC: 2713 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.137 AC: 475 AN: 3472

East Asian (EAS) AF: 0.153 AC: 791 AN: 5172

South Asian (SAS) AF: 0.0918 AC: 442 AN: 4814

European-Finnish (FIN) AF: 0.0760 AC: 806 AN: 10610

Middle Eastern (MID) AF: 0.156 AC: 46 AN: 294

European-Non Finnish (NFE) AF: 0.0967 AC: 6581 AN: 68024

Other (OTH) AF: 0.144 AC: 304 AN: 2114

Alfa AF: 0.106 Hom.: 3987

Bravo AF: 0.130

Asia WGS AF: 0.113 AC: 394 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.5
DANN	Benign	0.74
PhyloP100		1.0

Splicing

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

Other links and lift over

dbSNP: rs715969; hg19: chr8-132473863;