rs6910169

chr6-112562785-G-Achr6-112562785-G-Cchr6-112562785-G-T

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 0.569 in 151,948 control chromosomes in the GnomAD database, including 25,077 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 0.57 (25077 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.61

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 (EAS) allele frequency at 95% confidence interval = 0.737 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: 0.569 AC: 86422 AN: 151834 Hom.: 25082 Cov.: 32

Gnomad AFR AF: 0.482

Gnomad AMI AF: 0.670

Gnomad AMR AF: 0.529

Gnomad ASJ AF: 0.635

Gnomad EAS AF: 0.757

Gnomad SAS AF: 0.694

Gnomad FIN AF: 0.693

Gnomad MID AF: 0.656

Gnomad NFE AF: 0.584

Gnomad OTH AF: 0.559

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

GnomAD4 genome AF: 0.569 AC: 86444 AN: 151948 Hom.: 25077 Cov.: 32 AF XY: 0.577 AC XY: 42833 AN XY: 74242

Gnomad4 AFR AF: 0.482

Gnomad4 AMR AF: 0.528

Gnomad4 ASJ AF: 0.635

Gnomad4 EAS AF: 0.757

Gnomad4 SAS AF: 0.693

Gnomad4 FIN AF: 0.693

Gnomad4 NFE AF: 0.584

Gnomad4 OTH AF: 0.559

Alfa AF: 0.551 Hom.: 7958

Bravo AF: 0.548

Asia WGS AF: 0.697 AC: 2425 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	0.14
Dann	Benign	0.64

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6910169; hg19: chr6-112883987;