rs6910183

Variant names:

• chr6-169164940-C-A
• rs6910183

Your query was ambiguous. Multiple possible variants found:

• chr6-169164940-C-A
• chr6-169164940-C-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 0.756 in 152,176 control chromosomes in the GnomAD database, including 43,900 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 0.76 (43900 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.30

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.793 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: 0.757 AC: 115041 AN: 152058 Hom.: 43867 Cov.: 33

Gnomad AFR AF: 0.698

Gnomad AMI AF: 0.867

Gnomad AMR AF: 0.702

Gnomad ASJ AF: 0.772

Gnomad EAS AF: 0.722

Gnomad SAS AF: 0.642

Gnomad FIN AF: 0.853

Gnomad MID AF: 0.693

Gnomad NFE AF: 0.799

Gnomad OTH AF: 0.740

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

GnomAD4 genome AF: 0.756 AC: 115119 AN: 152176 Hom.: 43900 Cov.: 33 AF XY: 0.757 AC XY: 56293 AN XY: 74410

Gnomad4 AFR AF: 0.698

Gnomad4 AMR AF: 0.702

Gnomad4 ASJ AF: 0.772

Gnomad4 EAS AF: 0.722

Gnomad4 SAS AF: 0.641

Gnomad4 FIN AF: 0.853

Gnomad4 NFE AF: 0.799

Gnomad4 OTH AF: 0.739

Alfa AF: 0.785 Hom.: 77210

Bravo AF: 0.743

Asia WGS AF: 0.656 AC: 2284 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.034
DANN	Benign	0.29

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6910183; hg19: chr6-169565035;