rs11193608

Variant names:

• chr10-107677686-G-A
• rs11193608

Your query was ambiguous. Multiple possible variants found:

• chr10-107677686-G-A
• chr10-107677686-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 0.24 in 151,744 control chromosomes in the GnomAD database, including 4,884 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 0.24 (4884 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.211
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.352 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: 0.240 AC: 36434 AN: 151628 Hom.: 4877 Cov.: 33

Gnomad AFR AF: 0.356

Gnomad AMI AF: 0.207

Gnomad AMR AF: 0.164

Gnomad ASJ AF: 0.137

Gnomad EAS AF: 0.00270

Gnomad SAS AF: 0.147

Gnomad FIN AF: 0.239

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.218

Gnomad OTH AF: 0.225

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

GnomAD4 genome AF: 0.240 AC: 36464 AN: 151744 Hom.: 4884 Cov.: 33 AF XY: 0.237 AC XY: 17567 AN XY: 74148

African (AFR) AF: 0.356 AC: 14755 AN: 41408

American (AMR) AF: 0.163 AC: 2494 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.137 AC: 475 AN: 3464

East Asian (EAS) AF: 0.00290 AC: 15 AN: 5176

South Asian (SAS) AF: 0.148 AC: 711 AN: 4816

European-Finnish (FIN) AF: 0.239 AC: 2520 AN: 10522

Middle Eastern (MID) AF: 0.177 AC: 52 AN: 294

European-Non Finnish (NFE) AF: 0.218 AC: 14786 AN: 67776

Other (OTH) AF: 0.222 AC: 467 AN: 2104

Alfa AF: 0.207 Hom.: 5178

Bravo AF: 0.239

Asia WGS AF: 0.0890 AC: 311 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	7.0
DANN	Benign	0.81
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs11193608; hg19: chr10-109437444;