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. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.348 AC: 14402 AN: 41352

American (AMR) AF: 0.189 AC: 2868 AN: 15182

Ashkenazi Jewish (ASJ) AF: 0.0607 AC: 210 AN: 3462

East Asian (EAS) AF: 0.150 AC: 770 AN: 5130

South Asian (SAS) AF: 0.139 AC: 668 AN: 4800

European-Finnish (FIN) AF: 0.140 AC: 1482 AN: 10568

Middle Eastern (MID) AF: 0.163 AC: 48 AN: 294

European-Non Finnish (NFE) AF: 0.129 AC: 8742 AN: 67926

Other (OTH) AF: 0.167 AC: 351 AN: 2104

Alfa AF: 0.134 Hom.: 1030

Bravo AF: 0.207

Asia WGS AF: 0.155 AC: 543 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.7
DANN	Benign	0.73
PhyloP100		0.034

Splicing

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

Other links and lift over

dbSNP: rs7760381; hg19: chr6-77390412;