rs3132131

Variant names:

• chr6-32931708-A-G
• rs3132131

Your query was ambiguous. Multiple possible variants found:

• chr6-32931708-A-G
• chr6-32931708-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 0.731 in 152,186 control chromosomes in the GnomAD database, including 41,778 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 0.73 (41778 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.881

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.91 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: 0.731 AC: 111162 AN: 152066 Hom.: 41720 Cov.: 33

Gnomad AFR AF: 0.917

Gnomad AMI AF: 0.690

Gnomad AMR AF: 0.676

Gnomad ASJ AF: 0.668

Gnomad EAS AF: 0.658

Gnomad SAS AF: 0.704

Gnomad FIN AF: 0.579

Gnomad MID AF: 0.780

Gnomad NFE AF: 0.664

Gnomad OTH AF: 0.752

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

GnomAD4 genome AF: 0.731 AC: 111273 AN: 152186 Hom.: 41778 Cov.: 33 AF XY: 0.722 AC XY: 53717 AN XY: 74368

Gnomad4 AFR AF: 0.918

Gnomad4 AMR AF: 0.676

Gnomad4 ASJ AF: 0.668

Gnomad4 EAS AF: 0.659

Gnomad4 SAS AF: 0.703

Gnomad4 FIN AF: 0.579

Gnomad4 NFE AF: 0.664

Gnomad4 OTH AF: 0.748

Alfa AF: 0.681 Hom.: 26538

Bravo AF: 0.748

Asia WGS AF: 0.666 AC: 2319 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	1.5
DANN	Benign	0.85

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3132131; hg19: chr6-32899485;