rs7035592

Variant names:

• chr9-27234031-G-A
• rs7035592

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 0.56 in 151,826 control chromosomes in the GnomAD database, including 24,662 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 0.56 (24662 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.180
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.646 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: 0.560 AC: 85012 AN: 151706 Hom.: 24646 Cov.: 32

Gnomad AFR AF: 0.405

Gnomad AMI AF: 0.513

Gnomad AMR AF: 0.525

Gnomad ASJ AF: 0.727

Gnomad EAS AF: 0.522

Gnomad SAS AF: 0.647

Gnomad FIN AF: 0.553

Gnomad MID AF: 0.652

Gnomad NFE AF: 0.651

Gnomad OTH AF: 0.601

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

GnomAD4 genome AF: 0.560 AC: 85084 AN: 151826 Hom.: 24662 Cov.: 32 AF XY: 0.557 AC XY: 41293 AN XY: 74184

African (AFR) AF: 0.405 AC: 16765 AN: 41380

American (AMR) AF: 0.525 AC: 8010 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.727 AC: 2521 AN: 3468

East Asian (EAS) AF: 0.522 AC: 2695 AN: 5158

South Asian (SAS) AF: 0.648 AC: 3119 AN: 4816

European-Finnish (FIN) AF: 0.553 AC: 5799 AN: 10490

Middle Eastern (MID) AF: 0.660 AC: 194 AN: 294

European-Non Finnish (NFE) AF: 0.651 AC: 44230 AN: 67950

Other (OTH) AF: 0.609 AC: 1283 AN: 2108

Alfa AF: 0.632 Hom.: 99521

Bravo AF: 0.550

Asia WGS AF: 0.597 AC: 2075 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	3.0
DANN	Benign	0.66
PhyloP100		0.18

Splicing

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

Other links and lift over

dbSNP: rs7035592; hg19: chr9-27234029;