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. The variant received -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
• Publications: 20 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.183 AC: 7574 AN: 41348

American (AMR) AF: 0.308 AC: 4691 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.341 AC: 1181 AN: 3466

East Asian (EAS) AF: 0.372 AC: 1922 AN: 5168

South Asian (SAS) AF: 0.256 AC: 1230 AN: 4808

European-Finnish (FIN) AF: 0.430 AC: 4530 AN: 10532

Middle Eastern (MID) AF: 0.272 AC: 80 AN: 294

European-Non Finnish (NFE) AF: 0.395 AC: 26815 AN: 67946

Other (OTH) AF: 0.325 AC: 687 AN: 2112

Alfa AF: 0.367 Hom.: 49854

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
PhyloP100		-0.37

Splicing

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

Other links and lift over

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