rs71486745

chr10-94936017-CTG-Cchr10-94936017-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;