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. Variant got -9 ACMG points: 0P and 9B. BP6 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. Variant has been reported in Lovd as Benign (no stars).

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

ACMG classification

Verdict is Benign. Variant got -9 ACMG points.

• BP6: Variant 10-94936017-CTG-C is Benign according to our data. Variant chr10-94936017-CTG-C is described in Lovd as [Benign]. Variant chr10-94936017-CTG-C is described in Lovd as [Likely_benign].
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.304 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: 0.138 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

Gnomad4 AFR AF: 0.0367

Gnomad4 AMR AF: 0.125

Gnomad4 ASJ AF: 0.140

Gnomad4 EAS AF: 0.305

Gnomad4 SAS AF: 0.317

Gnomad4 FIN AF: 0.194

Gnomad4 NFE AF: 0.168

Gnomad4 OTH AF: 0.131

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 v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs71486745; hg19: chr10-96695774;