rs1731274

Variant names:

• chr8-23908806-G-A
• rs1731274

Your query was ambiguous. Multiple possible variants found:

• chr8-23908806-G-A
• chr8-23908806-G-C

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 0.615 in 151,940 control chromosomes in the GnomAD database, including 29,261 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 0.62 (29261 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0270
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.835 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: 0.615 AC: 93413 AN: 151820 Hom.: 29218 Cov.: 31

Gnomad AFR AF: 0.664

Gnomad AMI AF: 0.653

Gnomad AMR AF: 0.682

Gnomad ASJ AF: 0.673

Gnomad EAS AF: 0.730

Gnomad SAS AF: 0.858

Gnomad FIN AF: 0.516

Gnomad MID AF: 0.655

Gnomad NFE AF: 0.556

Gnomad OTH AF: 0.619

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

GnomAD4 genome AF: 0.615 AC: 93518 AN: 151940 Hom.: 29261 Cov.: 31 AF XY: 0.620 AC XY: 46028 AN XY: 74280

African (AFR) AF: 0.665 AC: 27544 AN: 41434

American (AMR) AF: 0.682 AC: 10421 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.673 AC: 2333 AN: 3466

East Asian (EAS) AF: 0.729 AC: 3730 AN: 5116

South Asian (SAS) AF: 0.857 AC: 4129 AN: 4818

European-Finnish (FIN) AF: 0.516 AC: 5457 AN: 10572

Middle Eastern (MID) AF: 0.653 AC: 192 AN: 294

European-Non Finnish (NFE) AF: 0.556 AC: 37805 AN: 67946

Other (OTH) AF: 0.622 AC: 1313 AN: 2110

Alfa AF: 0.433 Hom.: 1149

Bravo AF: 0.626

Asia WGS AF: 0.774 AC: 2691 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.2
DANN	Benign	0.31
PhyloP100		-0.027

Splicing

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

Other links and lift over

dbSNP: rs1731274; hg19: chr8-23766319;