rs7760381

Variant names:

• chr6-76680695-G-A
• rs7760381

Your query was ambiguous. Multiple possible variants found:

• chr6-76680695-G-A
• chr6-76680695-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 0.195 in 151,728 control chromosomes in the GnomAD database, including 3,753 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 0.19 (3753 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0340

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.344 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: 0.195 AC: 29556 AN: 151610 Hom.: 3747 Cov.: 32

Gnomad AFR AF: 0.348

Gnomad AMI AF: 0.0484

Gnomad AMR AF: 0.189

Gnomad ASJ AF: 0.0607

Gnomad EAS AF: 0.151

Gnomad SAS AF: 0.139

Gnomad FIN AF: 0.140

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.129

Gnomad OTH AF: 0.169

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

GnomAD4 genome AF: 0.195 AC: 29585 AN: 151728 Hom.: 3753 Cov.: 32 AF XY: 0.195 AC XY: 14444 AN XY: 74174

Gnomad4 AFR AF: 0.348

Gnomad4 AMR AF: 0.189

Gnomad4 ASJ AF: 0.0607

Gnomad4 EAS AF: 0.150

Gnomad4 SAS AF: 0.139

Gnomad4 FIN AF: 0.140

Gnomad4 NFE AF: 0.129

Gnomad4 OTH AF: 0.167

Alfa AF: 0.131 Hom.: 895

Bravo AF: 0.207

Asia WGS AF: 0.155 AC: 543 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.7
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7760381; hg19: chr6-77390412;