rs7897594

Variant names:

• chr10-18129251-A-G
• rs7897594

Your query was ambiguous. Multiple possible variants found:

• chr10-18129251-A-G
• chr10-18129251-A-T

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 0.291 in 151,990 control chromosomes in the GnomAD database, including 6,695 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 0.29 (6695 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.536
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.324 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: 0.291 AC: 44169 AN: 151872 Hom.: 6663 Cov.: 31

Gnomad AFR AF: 0.328

Gnomad AMI AF: 0.300

Gnomad AMR AF: 0.269

Gnomad ASJ AF: 0.203

Gnomad EAS AF: 0.311

Gnomad SAS AF: 0.307

Gnomad FIN AF: 0.404

Gnomad MID AF: 0.297

Gnomad NFE AF: 0.258

Gnomad OTH AF: 0.281

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

GnomAD4 genome AF: 0.291 AC: 44262 AN: 151990 Hom.: 6695 Cov.: 31 AF XY: 0.297 AC XY: 22062 AN XY: 74290

African (AFR) AF: 0.328 AC: 13611 AN: 41454

American (AMR) AF: 0.269 AC: 4106 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.203 AC: 704 AN: 3470

East Asian (EAS) AF: 0.311 AC: 1601 AN: 5152

South Asian (SAS) AF: 0.307 AC: 1481 AN: 4824

European-Finnish (FIN) AF: 0.404 AC: 4265 AN: 10544

Middle Eastern (MID) AF: 0.299 AC: 88 AN: 294

European-Non Finnish (NFE) AF: 0.258 AC: 17523 AN: 67968

Other (OTH) AF: 0.290 AC: 610 AN: 2106

Alfa AF: 0.262 Hom.: 14125

Bravo AF: 0.282

Asia WGS AF: 0.316 AC: 1096 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.0
DANN	Benign	0.56
PhyloP100		0.54

Splicing

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

Other links and lift over

dbSNP: rs7897594; hg19: chr10-18418180;