rs7765374

Variant names:

• chr6-86234881-G-A
• rs7765374

Your query was ambiguous. Multiple possible variants found:

• chr6-86234881-G-A
• chr6-86234881-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 0.593 in 151,974 control chromosomes in the GnomAD database, including 26,882 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 0.59 (26882 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.620
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.631 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: 0.593 AC: 90036 AN: 151854 Hom.: 26856 Cov.: 32

Gnomad AFR AF: 0.637

Gnomad AMI AF: 0.485

Gnomad AMR AF: 0.529

Gnomad ASJ AF: 0.537

Gnomad EAS AF: 0.628

Gnomad SAS AF: 0.560

Gnomad FIN AF: 0.619

Gnomad MID AF: 0.455

Gnomad NFE AF: 0.582

Gnomad OTH AF: 0.536

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

GnomAD4 genome AF: 0.593 AC: 90122 AN: 151974 Hom.: 26882 Cov.: 32 AF XY: 0.593 AC XY: 44030 AN XY: 74272

African (AFR) AF: 0.638 AC: 26435 AN: 41452

American (AMR) AF: 0.529 AC: 8078 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.537 AC: 1864 AN: 3470

East Asian (EAS) AF: 0.628 AC: 3232 AN: 5150

South Asian (SAS) AF: 0.559 AC: 2687 AN: 4810

European-Finnish (FIN) AF: 0.619 AC: 6536 AN: 10554

Middle Eastern (MID) AF: 0.473 AC: 138 AN: 292

European-Non Finnish (NFE) AF: 0.582 AC: 39574 AN: 67952

Other (OTH) AF: 0.540 AC: 1138 AN: 2106

Alfa AF: 0.568 Hom.: 11382

Bravo AF: 0.586

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	3.0
DANN	Benign	0.21
PhyloP100		-0.62

Splicing

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

Other links and lift over

dbSNP: rs7765374; hg19: chr6-86944599;