rs6905288

Variant names:

• chr6-43791136-G-A
• rs6905288

Your query was ambiguous. Multiple possible variants found:

• chr6-43791136-G-A
• chr6-43791136-G-C

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 0.566 in 152,022 control chromosomes in the GnomAD database, including 24,805 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 (24805 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0840
• Publications: 130 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.797 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: 0.566 AC: 86012 AN: 151904 Hom.: 24770 Cov.: 33

Gnomad AFR AF: 0.493

Gnomad AMI AF: 0.655

Gnomad AMR AF: 0.598

Gnomad ASJ AF: 0.627

Gnomad EAS AF: 0.722

Gnomad SAS AF: 0.817

Gnomad FIN AF: 0.584

Gnomad MID AF: 0.668

Gnomad NFE AF: 0.566

Gnomad OTH AF: 0.579

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

GnomAD4 genome AF: 0.566 AC: 86095 AN: 152022 Hom.: 24805 Cov.: 33 AF XY: 0.575 AC XY: 42734 AN XY: 74314

African (AFR) AF: 0.493 AC: 20420 AN: 41436

American (AMR) AF: 0.599 AC: 9153 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.627 AC: 2173 AN: 3468

East Asian (EAS) AF: 0.723 AC: 3739 AN: 5174

South Asian (SAS) AF: 0.818 AC: 3939 AN: 4816

European-Finnish (FIN) AF: 0.584 AC: 6186 AN: 10586

Middle Eastern (MID) AF: 0.673 AC: 198 AN: 294

European-Non Finnish (NFE) AF: 0.566 AC: 38476 AN: 67938

Other (OTH) AF: 0.576 AC: 1215 AN: 2110

Alfa AF: 0.569 Hom.: 95050

Bravo AF: 0.559

Asia WGS AF: 0.722 AC: 2513 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.1
DANN	Benign	0.43
PhyloP100		-0.084

Splicing

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

Other links and lift over

dbSNP: rs6905288; hg19: chr6-43758873;