rs6776634

Variant names:

• chr3-143186819-A-G
• rs6776634

Your query was ambiguous. Multiple possible variants found:

• chr3-143186819-A-G
• chr3-143186819-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 0.747 in 152,080 control chromosomes in the GnomAD database, including 42,864 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 0.75 (42864 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.151

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.826 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: 0.747 AC: 113515 AN: 151962 Hom.: 42823 Cov.: 31

Gnomad AFR AF: 0.833

Gnomad AMI AF: 0.710

Gnomad AMR AF: 0.738

Gnomad ASJ AF: 0.634

Gnomad EAS AF: 0.785

Gnomad SAS AF: 0.558

Gnomad FIN AF: 0.737

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.716

Gnomad OTH AF: 0.727

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

GnomAD4 genome AF: 0.747 AC: 113607 AN: 152080 Hom.: 42864 Cov.: 31 AF XY: 0.744 AC XY: 55307 AN XY: 74350

Gnomad4 AFR AF: 0.833

Gnomad4 AMR AF: 0.739

Gnomad4 ASJ AF: 0.634

Gnomad4 EAS AF: 0.784

Gnomad4 SAS AF: 0.557

Gnomad4 FIN AF: 0.737

Gnomad4 NFE AF: 0.716

Gnomad4 OTH AF: 0.729

Alfa AF: 0.717 Hom.: 38473

Bravo AF: 0.760

Asia WGS AF: 0.670 AC: 2334 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.1
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6776634; hg19: chr3-142905661;