chr7-8917411-C-T

Variant names:

• chr7-8917411-C-T
• rs10266202

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 0.602 in 152,010 control chromosomes in the GnomAD database, including 27,521 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 0.60 (27521 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.164
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.622 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: 0.601 AC: 91350 AN: 151892 Hom.: 27475 Cov.: 33

Gnomad AFR AF: 0.628

Gnomad AMI AF: 0.610

Gnomad AMR AF: 0.619

Gnomad ASJ AF: 0.592

Gnomad EAS AF: 0.573

Gnomad SAS AF: 0.517

Gnomad FIN AF: 0.607

Gnomad MID AF: 0.633

Gnomad NFE AF: 0.589

Gnomad OTH AF: 0.606

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

GnomAD4 genome AF: 0.602 AC: 91447 AN: 152010 Hom.: 27521 Cov.: 33 AF XY: 0.602 AC XY: 44717 AN XY: 74292

African (AFR) AF: 0.629 AC: 26052 AN: 41448

American (AMR) AF: 0.619 AC: 9459 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.592 AC: 2057 AN: 3472

East Asian (EAS) AF: 0.573 AC: 2964 AN: 5170

South Asian (SAS) AF: 0.516 AC: 2488 AN: 4820

European-Finnish (FIN) AF: 0.607 AC: 6404 AN: 10554

Middle Eastern (MID) AF: 0.653 AC: 192 AN: 294

European-Non Finnish (NFE) AF: 0.589 AC: 39992 AN: 67954

Other (OTH) AF: 0.607 AC: 1283 AN: 2112

Alfa AF: 0.594 Hom.: 84162

Bravo AF: 0.608

Asia WGS AF: 0.573 AC: 1993 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.69
DANN	Benign	0.45
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs10266202; hg19: chr7-8957041;