rs4718091

Variant names:

• chr7-62718702-C-G
• rs4718091

Your query was ambiguous. Multiple possible variants found:

• chr7-62718702-C-G
• chr7-62718702-C-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 0.465 in 151,144 control chromosomes in the GnomAD database, including 17,094 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 0.46 (17094 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0550
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.575 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: 0.465 AC: 70192 AN: 151042 Hom.: 17081 Cov.: 32

Gnomad AFR AF: 0.325

Gnomad AMI AF: 0.562

Gnomad AMR AF: 0.584

Gnomad ASJ AF: 0.507

Gnomad EAS AF: 0.324

Gnomad SAS AF: 0.500

Gnomad FIN AF: 0.552

Gnomad MID AF: 0.589

Gnomad NFE AF: 0.513

Gnomad OTH AF: 0.491

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

GnomAD4 genome AF: 0.465 AC: 70220 AN: 151144 Hom.: 17094 Cov.: 32 AF XY: 0.468 AC XY: 34535 AN XY: 73790

African (AFR) AF: 0.325 AC: 13419 AN: 41292

American (AMR) AF: 0.585 AC: 8829 AN: 15086

Ashkenazi Jewish (ASJ) AF: 0.507 AC: 1754 AN: 3460

East Asian (EAS) AF: 0.323 AC: 1656 AN: 5126

South Asian (SAS) AF: 0.500 AC: 2400 AN: 4798

European-Finnish (FIN) AF: 0.552 AC: 5772 AN: 10454

Middle Eastern (MID) AF: 0.565 AC: 166 AN: 294

European-Non Finnish (NFE) AF: 0.513 AC: 34693 AN: 67632

Other (OTH) AF: 0.488 AC: 1021 AN: 2094

Alfa AF: 0.468 Hom.: 2107

Bravo AF: 0.467

Asia WGS AF: 0.390 AC: 1355 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.3
DANN	Benign	0.34
PhyloP100		0.055

Splicing

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

Other links and lift over

dbSNP: rs4718091; hg19: chr7-62179080;