rs4730276

Variant names:

• chr7-107843992-G-A
• rs4730276

Your query was ambiguous. Multiple possible variants found:

• chr7-107843992-G-A
• chr7-107843992-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 151,832 control chromosomes in the GnomAD database, including 8,730 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 (8730 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.368

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) 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: 49129 AN: 151716 Hom.: 8723 Cov.: 32

Gnomad AFR AF: 0.183

Gnomad AMI AF: 0.487

Gnomad AMR AF: 0.307

Gnomad ASJ AF: 0.341

Gnomad EAS AF: 0.372

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.430

Gnomad MID AF: 0.269

Gnomad NFE AF: 0.395

Gnomad OTH AF: 0.327

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

GnomAD4 genome AF: 0.324 AC: 49151 AN: 151832 Hom.: 8730 Cov.: 32 AF XY: 0.324 AC XY: 24040 AN XY: 74194

Gnomad4 AFR AF: 0.183

Gnomad4 AMR AF: 0.308

Gnomad4 ASJ AF: 0.341

Gnomad4 EAS AF: 0.372

Gnomad4 SAS AF: 0.256

Gnomad4 FIN AF: 0.430

Gnomad4 NFE AF: 0.395

Gnomad4 OTH AF: 0.325

Alfa AF: 0.374 Hom.: 24728

Bravo AF: 0.311

Asia WGS AF: 0.318 AC: 1105 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.80
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4730276; hg19: chr7-107484437; COSMIC: COSV56009164;