rs7705033

Variant names:

• chr5-123439091-G-C
• rs7705033

Your query was ambiguous. Multiple possible variants found:

• chr5-123439091-G-C
• chr5-123439091-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 0.324 in 151,920 control chromosomes in the GnomAD database, including 8,242 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 0.32 (8242 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0490

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.391 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: 0.324 AC: 49136 AN: 151802 Hom.: 8208 Cov.: 32

Gnomad AFR AF: 0.395

Gnomad AMI AF: 0.183

Gnomad AMR AF: 0.323

Gnomad ASJ AF: 0.206

Gnomad EAS AF: 0.394

Gnomad SAS AF: 0.383

Gnomad FIN AF: 0.329

Gnomad MID AF: 0.252

Gnomad NFE AF: 0.278

Gnomad OTH AF: 0.317

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

GnomAD4 genome AF: 0.324 AC: 49212 AN: 151920 Hom.: 8242 Cov.: 32 AF XY: 0.326 AC XY: 24183 AN XY: 74234

Gnomad4 AFR AF: 0.396

Gnomad4 AMR AF: 0.323

Gnomad4 ASJ AF: 0.206

Gnomad4 EAS AF: 0.394

Gnomad4 SAS AF: 0.382

Gnomad4 FIN AF: 0.329

Gnomad4 NFE AF: 0.278

Gnomad4 OTH AF: 0.323

Alfa AF: 0.267 Hom.: 3129

Bravo AF: 0.323

Asia WGS AF: 0.465 AC: 1614 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	4.7
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7705033; hg19: chr5-122774785;