6-32776368-A-G

Variant names:

• chr6-32776368-A-G
• rs2857205

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 0.705 in 151,956 control chromosomes in the GnomAD database, including 37,922 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 0.71 (37922 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.27
• Publications: 21 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• 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: 0.705 AC: 107085 AN: 151838 Hom.: 37904 Cov.: 31

Gnomad AFR AF: 0.668

Gnomad AMI AF: 0.775

Gnomad AMR AF: 0.701

Gnomad ASJ AF: 0.749

Gnomad EAS AF: 0.759

Gnomad SAS AF: 0.819

Gnomad FIN AF: 0.790

Gnomad MID AF: 0.801

Gnomad NFE AF: 0.700

Gnomad OTH AF: 0.704

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

GnomAD4 genome AF: 0.705 AC: 107145 AN: 151956 Hom.: 37922 Cov.: 31 AF XY: 0.711 AC XY: 52814 AN XY: 74278

African (AFR) AF: 0.667 AC: 27615 AN: 41392

American (AMR) AF: 0.701 AC: 10716 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.749 AC: 2597 AN: 3468

East Asian (EAS) AF: 0.759 AC: 3914 AN: 5160

South Asian (SAS) AF: 0.819 AC: 3946 AN: 4820

European-Finnish (FIN) AF: 0.790 AC: 8344 AN: 10568

Middle Eastern (MID) AF: 0.803 AC: 236 AN: 294

European-Non Finnish (NFE) AF: 0.700 AC: 47585 AN: 67958

Other (OTH) AF: 0.707 AC: 1488 AN: 2106

Alfa AF: 0.703 Hom.: 91538

Bravo AF: 0.693

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	6.4
DANN	Benign	0.41
PhyloP100		1.3

Splicing

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

Other links and lift over

dbSNP: rs2857205; hg19: chr6-32744145;