7-95296794-G-A

Variant names:

• chr7-95296794-G-A
• rs10241881

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 0.134 in 152,120 control chromosomes in the GnomAD database, including 2,051 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 0.13 (2051 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.22
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.268 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: 0.134 AC: 20356 AN: 152002 Hom.: 2040 Cov.: 33

Gnomad AFR AF: 0.272

Gnomad AMI AF: 0.0461

Gnomad AMR AF: 0.145

Gnomad ASJ AF: 0.0671

Gnomad EAS AF: 0.118

Gnomad SAS AF: 0.0713

Gnomad FIN AF: 0.112

Gnomad MID AF: 0.0823

Gnomad NFE AF: 0.0618

Gnomad OTH AF: 0.114

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

GnomAD4 genome AF: 0.134 AC: 20403 AN: 152120 Hom.: 2051 Cov.: 33 AF XY: 0.135 AC XY: 10056 AN XY: 74346

African (AFR) AF: 0.272 AC: 11284 AN: 41442

American (AMR) AF: 0.146 AC: 2239 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0671 AC: 233 AN: 3470

East Asian (EAS) AF: 0.118 AC: 609 AN: 5170

South Asian (SAS) AF: 0.0703 AC: 339 AN: 4824

European-Finnish (FIN) AF: 0.112 AC: 1189 AN: 10590

Middle Eastern (MID) AF: 0.0884 AC: 26 AN: 294

European-Non Finnish (NFE) AF: 0.0618 AC: 4204 AN: 68012

Other (OTH) AF: 0.113 AC: 238 AN: 2114

Alfa AF: 0.0958 Hom.: 1552

Bravo AF: 0.145

Asia WGS AF: 0.100 AC: 350 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.37
DANN	Benign	0.50
PhyloP100		-2.2

Splicing

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

Other links and lift over

dbSNP: rs10241881; hg19: chr7-94926106;