rs71486745

Variant names:

• chr10-94936017-CTG-C
• rs71486745

Your query was ambiguous. Multiple possible variants found:

• chr10-94936017-CTG-C
• chr10-94936017-CTG-CTGTG

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.138 in 152,062 control chromosomes in the GnomAD database, including 1,906 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.14 (1906 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.471
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.304 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.138 AC: 20991 AN: 151944 Hom.: 1903 Cov.: 29

Gnomad AFR AF: 0.0368

Gnomad AMI AF: 0.201

Gnomad AMR AF: 0.125

Gnomad ASJ AF: 0.140

Gnomad EAS AF: 0.305

Gnomad SAS AF: 0.317

Gnomad FIN AF: 0.194

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.168

Gnomad OTH AF: 0.126

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

GnomAD4 genome AF: 0.138 AC: 20998 AN: 152062 Hom.: 1906 Cov.: 29 AF XY: 0.143 AC XY: 10614 AN XY: 74304

African (AFR) AF: 0.0367 AC: 1524 AN: 41532

American (AMR) AF: 0.125 AC: 1909 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.140 AC: 485 AN: 3470

East Asian (EAS) AF: 0.305 AC: 1568 AN: 5146

South Asian (SAS) AF: 0.317 AC: 1527 AN: 4810

European-Finnish (FIN) AF: 0.194 AC: 2050 AN: 10558

Middle Eastern (MID) AF: 0.0918 AC: 27 AN: 294

European-Non Finnish (NFE) AF: 0.168 AC: 11449 AN: 67966

Other (OTH) AF: 0.131 AC: 276 AN: 2114

Alfa AF: 0.146 Hom.: 228

Bravo AF: 0.125

Asia WGS AF: 0.292 AC: 1016 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.47

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs71486745;

hg19: chr10-96695774;