rs7091160

Variant names:

• chr10-122344361-G-A
• rs7091160

Your query was ambiguous. Multiple possible variants found:

• chr10-122344361-G-A
• chr10-122344361-G-C

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 0.335 in 151,994 control chromosomes in the GnomAD database, including 8,871 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 0.34 (8871 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.167
• 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 (SAS) allele frequency at 95% confidence interval = 0.447 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.336 AC: 50965 AN: 151876 Hom.: 8864 Cov.: 32

Gnomad AFR AF: 0.241

Gnomad AMI AF: 0.463

Gnomad AMR AF: 0.333

Gnomad ASJ AF: 0.423

Gnomad EAS AF: 0.359

Gnomad SAS AF: 0.462

Gnomad FIN AF: 0.329

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.377

Gnomad OTH AF: 0.361

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

GnomAD4 genome AF: 0.335 AC: 50986 AN: 151994 Hom.: 8871 Cov.: 32 AF XY: 0.336 AC XY: 24929 AN XY: 74264

African (AFR) AF: 0.240 AC: 9962 AN: 41456

American (AMR) AF: 0.334 AC: 5094 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.423 AC: 1468 AN: 3472

East Asian (EAS) AF: 0.359 AC: 1856 AN: 5168

South Asian (SAS) AF: 0.463 AC: 2224 AN: 4804

European-Finnish (FIN) AF: 0.329 AC: 3478 AN: 10562

Middle Eastern (MID) AF: 0.429 AC: 126 AN: 294

European-Non Finnish (NFE) AF: 0.377 AC: 25599 AN: 67942

Other (OTH) AF: 0.358 AC: 757 AN: 2116

Alfa AF: 0.368 Hom.: 17439

Bravo AF: 0.332

Asia WGS AF: 0.362 AC: 1258 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	0.81
DANN	Benign	0.74
PhyloP100		-0.17

Splicing

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

Other links and lift over

dbSNP: rs7091160; hg19: chr10-124103876;