rs10985950

Variant names:

• chr9-123300786-G-A
• rs10985950

Your query was ambiguous. Multiple possible variants found:

• chr9-123300786-G-A
• chr9-123300786-G-C
• chr9-123300786-G-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 0.499 in 151,838 control chromosomes in the GnomAD database, including 19,743 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 0.50 (19743 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.202

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 = 0.666 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: 0.499 AC: 75778 AN: 151720 Hom.: 19727 Cov.: 31

Gnomad AFR AF: 0.352

Gnomad AMI AF: 0.711

Gnomad AMR AF: 0.509

Gnomad ASJ AF: 0.572

Gnomad EAS AF: 0.449

Gnomad SAS AF: 0.684

Gnomad FIN AF: 0.498

Gnomad MID AF: 0.528

Gnomad NFE AF: 0.572

Gnomad OTH AF: 0.487

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

GnomAD4 genome AF: 0.499 AC: 75833 AN: 151838 Hom.: 19743 Cov.: 31 AF XY: 0.500 AC XY: 37079 AN XY: 74186

Gnomad4 AFR AF: 0.352

Gnomad4 AMR AF: 0.509

Gnomad4 ASJ AF: 0.572

Gnomad4 EAS AF: 0.449

Gnomad4 SAS AF: 0.686

Gnomad4 FIN AF: 0.498

Gnomad4 NFE AF: 0.572

Gnomad4 OTH AF: 0.484

Alfa AF: 0.557 Hom.: 47154

Bravo AF: 0.492

Asia WGS AF: 0.568 AC: 1976 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	2.0
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10985950; hg19: chr9-126063065;