rs7767167

Variant names:

• chr6-32797405-G-A
• rs7767167

Your query was ambiguous. Multiple possible variants found:

• chr6-32797405-G-A
• chr6-32797405-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.892 in 152,130 control chromosomes in the GnomAD database, including 60,572 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 0.89 (60572 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.369

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.956 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: 0.892 AC: 135566 AN: 152012 Hom.: 60519 Cov.: 30

Gnomad AFR AF: 0.900

Gnomad AMI AF: 0.913

Gnomad AMR AF: 0.920

Gnomad ASJ AF: 0.975

Gnomad EAS AF: 0.979

Gnomad SAS AF: 0.904

Gnomad FIN AF: 0.908

Gnomad MID AF: 0.915

Gnomad NFE AF: 0.865

Gnomad OTH AF: 0.906

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

GnomAD4 genome AF: 0.892 AC: 135680 AN: 152130 Hom.: 60572 Cov.: 30 AF XY: 0.894 AC XY: 66483 AN XY: 74392

Gnomad4 AFR AF: 0.900

Gnomad4 AMR AF: 0.920

Gnomad4 ASJ AF: 0.975

Gnomad4 EAS AF: 0.979

Gnomad4 SAS AF: 0.905

Gnomad4 FIN AF: 0.908

Gnomad4 NFE AF: 0.865

Gnomad4 OTH AF: 0.907

Alfa AF: 0.875 Hom.: 36644

Bravo AF: 0.894

Asia WGS AF: 0.936 AC: 3255 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	2.4
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7767167; hg19: chr6-32765182;