rs84034

Variant names:

• chr7-153330567-T-C
• rs84034

Your query was ambiguous. Multiple possible variants found:

• chr7-153330567-T-C
• chr7-153330567-T-G

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 0.7 in 152,140 control chromosomes in the GnomAD database, including 37,408 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 0.70 (37408 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.879
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.724 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: 0.700 AC: 106447 AN: 152022 Hom.: 37377 Cov.: 33

Gnomad AFR AF: 0.674

Gnomad AMI AF: 0.704

Gnomad AMR AF: 0.736

Gnomad ASJ AF: 0.628

Gnomad EAS AF: 0.664

Gnomad SAS AF: 0.705

Gnomad FIN AF: 0.681

Gnomad MID AF: 0.687

Gnomad NFE AF: 0.717

Gnomad OTH AF: 0.713

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

GnomAD4 genome AF: 0.700 AC: 106529 AN: 152140 Hom.: 37408 Cov.: 33 AF XY: 0.701 AC XY: 52126 AN XY: 74362

African (AFR) AF: 0.674 AC: 27988 AN: 41514

American (AMR) AF: 0.736 AC: 11250 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.628 AC: 2180 AN: 3470

East Asian (EAS) AF: 0.664 AC: 3426 AN: 5158

South Asian (SAS) AF: 0.705 AC: 3395 AN: 4818

European-Finnish (FIN) AF: 0.681 AC: 7196 AN: 10572

Middle Eastern (MID) AF: 0.687 AC: 202 AN: 294

European-Non Finnish (NFE) AF: 0.717 AC: 48747 AN: 68002

Other (OTH) AF: 0.712 AC: 1503 AN: 2112

Alfa AF: 0.712 Hom.: 49292

Bravo AF: 0.700

Asia WGS AF: 0.662 AC: 2301 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	7.2
DANN	Benign	0.79
PhyloP100		0.88

Splicing

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

Other links and lift over

dbSNP: rs84034; hg19: chr7-153027652;