rs2769595

Positions:

• chr9-85303316-G-A
• chr9-85303316-G-T

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 0.439 in 152,080 control chromosomes in the GnomAD database, including 16,675 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 0.44 (16675 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.587

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.561 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.440 AC: 66792 AN: 151962 Hom.: 16682 Cov.: 32

Gnomad AFR AF: 0.216

Gnomad AMI AF: 0.537

Gnomad AMR AF: 0.423

Gnomad ASJ AF: 0.536

Gnomad EAS AF: 0.194

Gnomad SAS AF: 0.578

Gnomad FIN AF: 0.538

Gnomad MID AF: 0.636

Gnomad NFE AF: 0.565

Gnomad OTH AF: 0.477

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

GnomAD4 genome AF: 0.439 AC: 66793 AN: 152080 Hom.: 16675 Cov.: 32 AF XY: 0.439 AC XY: 32661 AN XY: 74324

Gnomad4 AFR AF: 0.215

Gnomad4 AMR AF: 0.423

Gnomad4 ASJ AF: 0.536

Gnomad4 EAS AF: 0.195

Gnomad4 SAS AF: 0.579

Gnomad4 FIN AF: 0.538

Gnomad4 NFE AF: 0.565

Gnomad4 OTH AF: 0.475

Alfa AF: 0.375 Hom.: 1516

Bravo AF: 0.414

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.30
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2769595; hg19: chr9-87918231;