rs6932373

Variant names:

• chr6-121469844-A-G
• rs6932373

Your query was ambiguous. Multiple possible variants found:

• chr6-121469844-A-G
• chr6-121469844-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 0.569 in 151,980 control chromosomes in the GnomAD database, including 25,383 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 (25383 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.07
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.709 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: 0.570 AC: 86501 AN: 151864 Hom.: 25379 Cov.: 32

Gnomad AFR AF: 0.427

Gnomad AMI AF: 0.754

Gnomad AMR AF: 0.697

Gnomad ASJ AF: 0.670

Gnomad EAS AF: 0.618

Gnomad SAS AF: 0.730

Gnomad FIN AF: 0.543

Gnomad MID AF: 0.525

Gnomad NFE AF: 0.609

Gnomad OTH AF: 0.581

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

GnomAD4 genome AF: 0.569 AC: 86530 AN: 151980 Hom.: 25383 Cov.: 32 AF XY: 0.572 AC XY: 42502 AN XY: 74300

African (AFR) AF: 0.427 AC: 17698 AN: 41444

American (AMR) AF: 0.698 AC: 10650 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.670 AC: 2324 AN: 3468

East Asian (EAS) AF: 0.618 AC: 3190 AN: 5162

South Asian (SAS) AF: 0.729 AC: 3516 AN: 4824

European-Finnish (FIN) AF: 0.543 AC: 5731 AN: 10554

Middle Eastern (MID) AF: 0.534 AC: 157 AN: 294

European-Non Finnish (NFE) AF: 0.609 AC: 41359 AN: 67950

Other (OTH) AF: 0.579 AC: 1219 AN: 2106

Alfa AF: 0.600 Hom.: 106115

Bravo AF: 0.576

Asia WGS AF: 0.638 AC: 2220 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	5.2
DANN	Benign	0.78
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs6932373; hg19: chr6-121790990;