rs7769979

Variant names:

• chr6-32755795-G-A
• rs7769979

Your query was ambiguous. Multiple possible variants found:

• chr6-32755795-G-A
• chr6-32755795-G-C
• chr6-32755795-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 0.5 in 151,428 control chromosomes in the GnomAD database, including 19,758 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 0.50 (19758 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.73
• Publications: 24 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.79 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: 0.500 AC: 75669 AN: 151310 Hom.: 19728 Cov.: 32

Gnomad AFR AF: 0.391

Gnomad AMI AF: 0.684

Gnomad AMR AF: 0.555

Gnomad ASJ AF: 0.560

Gnomad EAS AF: 0.810

Gnomad SAS AF: 0.682

Gnomad FIN AF: 0.580

Gnomad MID AF: 0.630

Gnomad NFE AF: 0.498

Gnomad OTH AF: 0.523

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

GnomAD4 genome AF: 0.500 AC: 75759 AN: 151428 Hom.: 19758 Cov.: 32 AF XY: 0.510 AC XY: 37750 AN XY: 74006

African (AFR) AF: 0.392 AC: 16141 AN: 41214

American (AMR) AF: 0.555 AC: 8446 AN: 15224

Ashkenazi Jewish (ASJ) AF: 0.560 AC: 1934 AN: 3454

East Asian (EAS) AF: 0.810 AC: 4186 AN: 5168

South Asian (SAS) AF: 0.682 AC: 3277 AN: 4804

European-Finnish (FIN) AF: 0.580 AC: 6082 AN: 10494

Middle Eastern (MID) AF: 0.643 AC: 189 AN: 294

European-Non Finnish (NFE) AF: 0.498 AC: 33767 AN: 67764

Other (OTH) AF: 0.530 AC: 1117 AN: 2106

Alfa AF: 0.481 Hom.: 41308

Bravo AF: 0.491

Asia WGS AF: 0.705 AC: 2446 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.24
DANN	Benign	0.35
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs7769979; hg19: chr6-32723572;