rs7911065

Positions:

• chr10-61270991-G-A
• chr10-61270991-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.649 in 151,996 control chromosomes in the GnomAD database, including 33,556 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.65 (33556 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.754

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.834 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: 0.649 AC: 98520 AN: 151878 Hom.: 33500 Cov.: 31

Gnomad AFR AF: 0.841

Gnomad AMI AF: 0.558

Gnomad AMR AF: 0.674

Gnomad ASJ AF: 0.518

Gnomad EAS AF: 0.819

Gnomad SAS AF: 0.706

Gnomad FIN AF: 0.417

Gnomad MID AF: 0.655

Gnomad NFE AF: 0.553

Gnomad OTH AF: 0.622

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

GnomAD4 genome AF: 0.649 AC: 98635 AN: 151996 Hom.: 33556 Cov.: 31 AF XY: 0.646 AC XY: 48011 AN XY: 74266

Gnomad4 AFR AF: 0.841

Gnomad4 AMR AF: 0.675

Gnomad4 ASJ AF: 0.518

Gnomad4 EAS AF: 0.818

Gnomad4 SAS AF: 0.706

Gnomad4 FIN AF: 0.417

Gnomad4 NFE AF: 0.553

Gnomad4 OTH AF: 0.624

Alfa AF: 0.593 Hom.: 13701

Bravo AF: 0.678

Asia WGS AF: 0.776 AC: 2696 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.25
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7911065; hg19: chr10-63030749;