rs7765379

Variant names:

• chr6-32713151-T-G
• rs7765379

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 0.104 in 152,124 control chromosomes in the GnomAD database, including 895 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 (895 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.125
• Publications: 61 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• 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: 15771 AN: 152004 Hom.: 895 Cov.: 31

Gnomad AFR AF: 0.0904

Gnomad AMI AF: 0.0451

Gnomad AMR AF: 0.116

Gnomad ASJ AF: 0.0726

Gnomad EAS AF: 0.103

Gnomad SAS AF: 0.0240

Gnomad FIN AF: 0.180

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.106

Gnomad OTH AF: 0.0821

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

GnomAD4 genome AF: 0.104 AC: 15789 AN: 152124 Hom.: 895 Cov.: 31 AF XY: 0.106 AC XY: 7870 AN XY: 74360

African (AFR) AF: 0.0903 AC: 3747 AN: 41510

American (AMR) AF: 0.117 AC: 1784 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.0726 AC: 252 AN: 3472

East Asian (EAS) AF: 0.104 AC: 536 AN: 5168

South Asian (SAS) AF: 0.0247 AC: 119 AN: 4820

European-Finnish (FIN) AF: 0.180 AC: 1908 AN: 10584

Middle Eastern (MID) AF: 0.0646 AC: 19 AN: 294

European-Non Finnish (NFE) AF: 0.106 AC: 7211 AN: 67972

Other (OTH) AF: 0.0817 AC: 172 AN: 2106

Alfa AF: 0.104 Hom.: 3040

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	-0.89
CADD	Benign	8.6
DANN	Benign	0.27
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs7765379; hg19: chr6-32680928;