rs6912187

Variant names:

• chr6-95649653-A-G
• rs6912187

Your query was ambiguous. Multiple possible variants found:

• chr6-95649653-A-G
• chr6-95649653-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.854 in 152,010 control chromosomes in the GnomAD database, including 55,650 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 0.85 (55650 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.205
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.908 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: 0.854 AC: 129679 AN: 151892 Hom.: 55609 Cov.: 31

Gnomad AFR AF: 0.916

Gnomad AMI AF: 0.762

Gnomad AMR AF: 0.852

Gnomad ASJ AF: 0.930

Gnomad EAS AF: 0.877

Gnomad SAS AF: 0.905

Gnomad FIN AF: 0.776

Gnomad MID AF: 0.934

Gnomad NFE AF: 0.819

Gnomad OTH AF: 0.882

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

GnomAD4 genome AF: 0.854 AC: 129775 AN: 152010 Hom.: 55650 Cov.: 31 AF XY: 0.852 AC XY: 63308 AN XY: 74286

African (AFR) AF: 0.916 AC: 37996 AN: 41490

American (AMR) AF: 0.852 AC: 13005 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.930 AC: 3226 AN: 3468

East Asian (EAS) AF: 0.878 AC: 4494 AN: 5120

South Asian (SAS) AF: 0.904 AC: 4355 AN: 4820

European-Finnish (FIN) AF: 0.776 AC: 8216 AN: 10584

Middle Eastern (MID) AF: 0.922 AC: 271 AN: 294

European-Non Finnish (NFE) AF: 0.819 AC: 55666 AN: 67948

Other (OTH) AF: 0.878 AC: 1853 AN: 2110

Alfa AF: 0.835 Hom.: 17827

Bravo AF: 0.864

Asia WGS AF: 0.886 AC: 3081 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	9.2
DANN	Benign	0.87
PhyloP100		0.20

Splicing

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

Other links and lift over

dbSNP: rs6912187; hg19: chr6-96097529;