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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.862

Gnomad4 AMR AF: 0.687

Gnomad4 ASJ AF: 0.550

Gnomad4 EAS AF: 0.928

Gnomad4 SAS AF: 0.712

Gnomad4 FIN AF: 0.581

Gnomad4 NFE AF: 0.527

Gnomad4 OTH AF: 0.670

Alfa AF: 0.567 Hom.: 14166

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7702361; hg19: chr5-33935943;