rs7705343

Variant names:

• chr5-44879475-G-A
• rs7705343

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 0.551 in 151,912 control chromosomes in the GnomAD database, including 23,402 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 0.55 (23402 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.108

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 (NFE) allele frequency at 95% confidence interval = 0.59 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: 0.551 AC: 83621 AN: 151796 Hom.: 23393 Cov.: 31

Gnomad AFR AF: 0.485

Gnomad AMI AF: 0.666

Gnomad AMR AF: 0.534

Gnomad ASJ AF: 0.569

Gnomad EAS AF: 0.448

Gnomad SAS AF: 0.513

Gnomad FIN AF: 0.601

Gnomad MID AF: 0.582

Gnomad NFE AF: 0.594

Gnomad OTH AF: 0.555

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

GnomAD4 genome AF: 0.551 AC: 83648 AN: 151912 Hom.: 23402 Cov.: 31 AF XY: 0.548 AC XY: 40671 AN XY: 74228

Gnomad4 AFR AF: 0.485

Gnomad4 AMR AF: 0.534

Gnomad4 ASJ AF: 0.569

Gnomad4 EAS AF: 0.448

Gnomad4 SAS AF: 0.513

Gnomad4 FIN AF: 0.601

Gnomad4 NFE AF: 0.594

Gnomad4 OTH AF: 0.549

Alfa AF: 0.575 Hom.: 15143

Bravo AF: 0.542

Asia WGS AF: 0.438 AC: 1528 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	3.0
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7705343; hg19: chr5-44879577;