rs4329228

Variant names:

• chr7-84698761-A-C
• rs4329228

Your query was ambiguous. Multiple possible variants found:

• chr7-84698761-A-C
• chr7-84698761-A-G
• chr7-84698761-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 0.336 in 151,792 control chromosomes in the GnomAD database, including 10,190 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 0.34 (10190 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.22

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.535 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: 0.335 AC: 50852 AN: 151674 Hom.: 10157 Cov.: 32

Gnomad AFR AF: 0.541

Gnomad AMI AF: 0.203

Gnomad AMR AF: 0.362

Gnomad ASJ AF: 0.271

Gnomad EAS AF: 0.523

Gnomad SAS AF: 0.222

Gnomad FIN AF: 0.161

Gnomad MID AF: 0.272

Gnomad NFE AF: 0.231

Gnomad OTH AF: 0.333

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

GnomAD4 genome AF: 0.336 AC: 50934 AN: 151792 Hom.: 10190 Cov.: 32 AF XY: 0.332 AC XY: 24649 AN XY: 74188

Gnomad4 AFR AF: 0.541

Gnomad4 AMR AF: 0.362

Gnomad4 ASJ AF: 0.271

Gnomad4 EAS AF: 0.523

Gnomad4 SAS AF: 0.222

Gnomad4 FIN AF: 0.161

Gnomad4 NFE AF: 0.231

Gnomad4 OTH AF: 0.333

Alfa AF: 0.257 Hom.: 2449

Bravo AF: 0.362

Asia WGS AF: 0.356 AC: 1225 AN: 3446

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.25
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4329228; hg19: chr7-84328077;