rs10911628

Variant names:

• chr1-184680369-C-A
• rs10911628

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 0.0917 in 152,198 control chromosomes in the GnomAD database, including 852 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 0.092 (852 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.234

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.171 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: 0.0916 AC: 13928 AN: 152080 Hom.: 851 Cov.: 32

Gnomad AFR AF: 0.174

Gnomad AMI AF: 0.0603

Gnomad AMR AF: 0.0755

Gnomad ASJ AF: 0.0874

Gnomad EAS AF: 0.0483

Gnomad SAS AF: 0.0516

Gnomad FIN AF: 0.0164

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.0630

Gnomad OTH AF: 0.0970

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

GnomAD4 genome AF: 0.0917 AC: 13954 AN: 152198 Hom.: 852 Cov.: 32 AF XY: 0.0880 AC XY: 6548 AN XY: 74402

Gnomad4 AFR AF: 0.174

Gnomad4 AMR AF: 0.0755

Gnomad4 ASJ AF: 0.0874

Gnomad4 EAS AF: 0.0482

Gnomad4 SAS AF: 0.0514

Gnomad4 FIN AF: 0.0164

Gnomad4 NFE AF: 0.0630

Gnomad4 OTH AF: 0.0965

Alfa AF: 0.0689 Hom.: 369

Bravo AF: 0.101

Asia WGS AF: 0.0590 AC: 205 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	4.2
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10911628; hg19: chr1-184649503;