rs7526795

Variant names:

• chr1-91453883-G-A
• rs7526795

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 0.37 in 151,886 control chromosomes in the GnomAD database, including 10,699 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 0.37 (10699 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0240

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.434 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: 0.370 AC: 56196 AN: 151768 Hom.: 10691 Cov.: 31

Gnomad AFR AF: 0.440

Gnomad AMI AF: 0.347

Gnomad AMR AF: 0.278

Gnomad ASJ AF: 0.427

Gnomad EAS AF: 0.235

Gnomad SAS AF: 0.317

Gnomad FIN AF: 0.349

Gnomad MID AF: 0.402

Gnomad NFE AF: 0.364

Gnomad OTH AF: 0.353

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

GnomAD4 genome AF: 0.370 AC: 56232 AN: 151886 Hom.: 10699 Cov.: 31 AF XY: 0.366 AC XY: 27192 AN XY: 74212

Gnomad4 AFR AF: 0.440

Gnomad4 AMR AF: 0.277

Gnomad4 ASJ AF: 0.427

Gnomad4 EAS AF: 0.236

Gnomad4 SAS AF: 0.317

Gnomad4 FIN AF: 0.349

Gnomad4 NFE AF: 0.364

Gnomad4 OTH AF: 0.351

Alfa AF: 0.360 Hom.: 5121

Bravo AF: 0.368

Asia WGS AF: 0.292 AC: 1015 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.87
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7526795; hg19: chr1-91919440; COSMIC: COSV59972753;