rs7702361

Variant names:

• chr5-33935838-A-C
• rs7702361

Your query was ambiguous. Multiple possible variants found:

• chr5-33935838-A-C
• chr5-33935838-A-G
• chr5-33935838-A-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 0.662 in 152,090 control chromosomes in the GnomAD database, including 35,091 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 0.66 (35091 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.429
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.906 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: 0.662 AC: 100549 AN: 151972 Hom.: 35027 Cov.: 32

Gnomad AFR AF: 0.862

Gnomad AMI AF: 0.732

Gnomad AMR AF: 0.686

Gnomad ASJ AF: 0.550

Gnomad EAS AF: 0.928

Gnomad SAS AF: 0.711

Gnomad FIN AF: 0.581

Gnomad MID AF: 0.772

Gnomad NFE AF: 0.527

Gnomad OTH AF: 0.669

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

GnomAD4 genome AF: 0.662 AC: 100670 AN: 152090 Hom.: 35091 Cov.: 32 AF XY: 0.666 AC XY: 49480 AN XY: 74322

African (AFR) AF: 0.862 AC: 35776 AN: 41496

American (AMR) AF: 0.687 AC: 10500 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.550 AC: 1906 AN: 3468

East Asian (EAS) AF: 0.928 AC: 4803 AN: 5176

South Asian (SAS) AF: 0.712 AC: 3436 AN: 4826

European-Finnish (FIN) AF: 0.581 AC: 6140 AN: 10568

Middle Eastern (MID) AF: 0.776 AC: 228 AN: 294

European-Non Finnish (NFE) AF: 0.527 AC: 35799 AN: 67948

Other (OTH) AF: 0.670 AC: 1416 AN: 2112

Alfa AF: 0.616 Hom.: 25932

Bravo AF: 0.681

Asia WGS AF: 0.802 AC: 2787 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	1.2
DANN	Benign	0.48
PhyloP100		-0.43

Splicing

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

Other links and lift over

dbSNP: rs7702361; hg19: chr5-33935943;