rs10905718

Variant names:

• chr10-6072893-A-G
• rs10905718

Your query was ambiguous. Multiple possible variants found:

• chr10-6072893-A-G
• chr10-6072893-A-T

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 0.254 in 151,922 control chromosomes in the GnomAD database, including 5,607 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 0.25 (5607 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.818

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.317 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: 0.254 AC: 38576 AN: 151804 Hom.: 5598 Cov.: 32

Gnomad AFR AF: 0.131

Gnomad AMI AF: 0.382

Gnomad AMR AF: 0.221

Gnomad ASJ AF: 0.186

Gnomad EAS AF: 0.267

Gnomad SAS AF: 0.329

Gnomad FIN AF: 0.360

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.316

Gnomad OTH AF: 0.246

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

GnomAD4 genome AF: 0.254 AC: 38598 AN: 151922 Hom.: 5607 Cov.: 32 AF XY: 0.256 AC XY: 19009 AN XY: 74252

Gnomad4 AFR AF: 0.131

Gnomad4 AMR AF: 0.221

Gnomad4 ASJ AF: 0.186

Gnomad4 EAS AF: 0.266

Gnomad4 SAS AF: 0.331

Gnomad4 FIN AF: 0.360

Gnomad4 NFE AF: 0.316

Gnomad4 OTH AF: 0.249

Alfa AF: 0.290 Hom.: 11300

Bravo AF: 0.234

Asia WGS AF: 0.287 AC: 1000 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	11
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10905718; hg19: chr10-6114856;