rs11438971

chr10-70171117-C-CA

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.936 in 151,812 control chromosomes in the GnomAD database, including 66,588 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.94 (66588 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.691

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.968 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: 0.936 AC: 141981 AN: 151694 Hom.: 66533 Cov.: 0

Gnomad AFR AF: 0.955

Gnomad AMI AF: 0.988

Gnomad AMR AF: 0.943

Gnomad ASJ AF: 0.903

Gnomad EAS AF: 0.991

Gnomad SAS AF: 0.904

Gnomad FIN AF: 0.951

Gnomad MID AF: 0.858

Gnomad NFE AF: 0.920

Gnomad OTH AF: 0.923

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

GnomAD4 genome AF: 0.936 AC: 142095 AN: 151812 Hom.: 66588 Cov.: 0 AF XY: 0.937 AC XY: 69466 AN XY: 74162

Gnomad4 AFR AF: 0.955

Gnomad4 AMR AF: 0.943

Gnomad4 ASJ AF: 0.903

Gnomad4 EAS AF: 0.991

Gnomad4 SAS AF: 0.904

Gnomad4 FIN AF: 0.951

Gnomad4 NFE AF: 0.920

Gnomad4 OTH AF: 0.923

Alfa AF: 0.929 Hom.: 8006

Bravo AF: 0.935

Asia WGS AF: 0.950 AC: 3305 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: rs11438971; hg19: chr10-71930873;