rs11438971

Variant names:

• chr10-70171117-C-CA
• rs11438971

Variant summary

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

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;