rs6938061

Variant names:

• chr6-37706563-A-G
• rs6938061

Your query was ambiguous. Multiple possible variants found:

• chr6-37706563-A-G
• chr6-37706563-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 0.608 in 152,148 control chromosomes in the GnomAD database, including 29,244 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 0.61 (29244 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.389
• Publications: 35 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.775 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: 0.607 AC: 92350 AN: 152030 Hom.: 29176 Cov.: 32

Gnomad AFR AF: 0.782

Gnomad AMI AF: 0.433

Gnomad AMR AF: 0.571

Gnomad ASJ AF: 0.410

Gnomad EAS AF: 0.528

Gnomad SAS AF: 0.670

Gnomad FIN AF: 0.583

Gnomad MID AF: 0.437

Gnomad NFE AF: 0.530

Gnomad OTH AF: 0.553

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

GnomAD4 genome AF: 0.608 AC: 92485 AN: 152148 Hom.: 29244 Cov.: 32 AF XY: 0.609 AC XY: 45269 AN XY: 74374

African (AFR) AF: 0.782 AC: 32467 AN: 41512

American (AMR) AF: 0.572 AC: 8734 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.410 AC: 1423 AN: 3470

East Asian (EAS) AF: 0.528 AC: 2736 AN: 5182

South Asian (SAS) AF: 0.670 AC: 3231 AN: 4822

European-Finnish (FIN) AF: 0.583 AC: 6159 AN: 10572

Middle Eastern (MID) AF: 0.439 AC: 129 AN: 294

European-Non Finnish (NFE) AF: 0.530 AC: 36033 AN: 67994

Other (OTH) AF: 0.558 AC: 1179 AN: 2112

Alfa AF: 0.549 Hom.: 100821

Bravo AF: 0.610

Asia WGS AF: 0.631 AC: 2193 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.64
DANN	Benign	0.62
PhyloP100		-0.39

Splicing

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

Other links and lift over

dbSNP: rs6938061; hg19: chr6-37674339;