rs10795737

Variant names:

• chr10-6007381-C-T
• rs10795737

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 0.243 in 151,838 control chromosomes in the GnomAD database, including 4,703 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 (4703 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.487
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.354 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.243 AC: 36929 AN: 151720 Hom.: 4696 Cov.: 31

Gnomad AFR AF: 0.217

Gnomad AMI AF: 0.141

Gnomad AMR AF: 0.224

Gnomad ASJ AF: 0.212

Gnomad EAS AF: 0.369

Gnomad SAS AF: 0.285

Gnomad FIN AF: 0.244

Gnomad MID AF: 0.142

Gnomad NFE AF: 0.255

Gnomad OTH AF: 0.217

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

GnomAD4 genome AF: 0.243 AC: 36971 AN: 151838 Hom.: 4703 Cov.: 31 AF XY: 0.243 AC XY: 17996 AN XY: 74180

African (AFR) AF: 0.218 AC: 9024 AN: 41368

American (AMR) AF: 0.224 AC: 3418 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.212 AC: 734 AN: 3470

East Asian (EAS) AF: 0.368 AC: 1898 AN: 5160

South Asian (SAS) AF: 0.284 AC: 1366 AN: 4804

European-Finnish (FIN) AF: 0.244 AC: 2578 AN: 10544

Middle Eastern (MID) AF: 0.133 AC: 39 AN: 294

European-Non Finnish (NFE) AF: 0.255 AC: 17322 AN: 67946

Other (OTH) AF: 0.221 AC: 463 AN: 2096

Alfa AF: 0.253 Hom.: 4416

Bravo AF: 0.238

Asia WGS AF: 0.362 AC: 1259 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	11
DANN	Benign	0.79
PhyloP100		-0.49

Splicing

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

Other links and lift over

dbSNP: rs10795737; hg19: chr10-6049344;