rs7526795

Variant names:

• chr1-91453883-G-A
• rs7526795

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 0.37 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
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.440 AC: 18203 AN: 41412

American (AMR) AF: 0.277 AC: 4233 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.427 AC: 1481 AN: 3468

East Asian (EAS) AF: 0.236 AC: 1221 AN: 5172

South Asian (SAS) AF: 0.317 AC: 1527 AN: 4814

European-Finnish (FIN) AF: 0.349 AC: 3668 AN: 10512

Middle Eastern (MID) AF: 0.408 AC: 120 AN: 294

European-Non Finnish (NFE) AF: 0.364 AC: 24722 AN: 67938

Other (OTH) AF: 0.351 AC: 741 AN: 2110

Alfa AF: 0.362 Hom.: 5743

Bravo AF: 0.368

Asia WGS AF: 0.292 AC: 1015 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.87
DANN	Benign	0.65
PhyloP100		-0.024

Splicing

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

Other links and lift over

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