rs7764819

Variant names:

• chr6-32712799-T-G
• rs7764819

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 0.104 in 152,276 control chromosomes in the GnomAD database, including 900 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 0.10 (900 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.125

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.76).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.112 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: 0.104 AC: 15811 AN: 152158 Hom.: 900 Cov.: 33

Gnomad AFR AF: 0.0905

Gnomad AMI AF: 0.0450

Gnomad AMR AF: 0.116

Gnomad ASJ AF: 0.0724

Gnomad EAS AF: 0.104

Gnomad SAS AF: 0.0244

Gnomad FIN AF: 0.181

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.106

Gnomad OTH AF: 0.0828

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

GnomAD4 genome AF: 0.104 AC: 15829 AN: 152276 Hom.: 900 Cov.: 33 AF XY: 0.106 AC XY: 7898 AN XY: 74454

Gnomad4 AFR AF: 0.0904

Gnomad4 AMR AF: 0.117

Gnomad4 ASJ AF: 0.0724

Gnomad4 EAS AF: 0.104

Gnomad4 SAS AF: 0.0251

Gnomad4 FIN AF: 0.181

Gnomad4 NFE AF: 0.106

Gnomad4 OTH AF: 0.0824

Alfa AF: 0.112 Hom.: 221

Bravo AF: 0.102

Asia WGS AF: 0.0720 AC: 252 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.76
CADD	Benign	12
DANN	Benign	0.89

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7764819; hg19: chr6-32680576;