rs7767277

Variant names:

• chr6-32885265-C-A
• rs7767277

Your query was ambiguous. Multiple possible variants found:

• chr6-32885265-C-A
• chr6-32885265-C-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 0.138 in 152,022 control chromosomes in the GnomAD database, including 1,765 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 0.14 (1765 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.55
• Publications: 21 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.214 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: 0.138 AC: 20933 AN: 151904 Hom.: 1752 Cov.: 30

Gnomad AFR AF: 0.218

Gnomad AMI AF: 0.0230

Gnomad AMR AF: 0.153

Gnomad ASJ AF: 0.185

Gnomad EAS AF: 0.173

Gnomad SAS AF: 0.177

Gnomad FIN AF: 0.0815

Gnomad MID AF: 0.130

Gnomad NFE AF: 0.0885

Gnomad OTH AF: 0.132

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

GnomAD4 genome AF: 0.138 AC: 20996 AN: 152022 Hom.: 1765 Cov.: 30 AF XY: 0.140 AC XY: 10412 AN XY: 74314

African (AFR) AF: 0.218 AC: 9024 AN: 41428

American (AMR) AF: 0.154 AC: 2356 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.185 AC: 640 AN: 3466

East Asian (EAS) AF: 0.173 AC: 896 AN: 5184

South Asian (SAS) AF: 0.177 AC: 855 AN: 4820

European-Finnish (FIN) AF: 0.0815 AC: 861 AN: 10570

Middle Eastern (MID) AF: 0.139 AC: 41 AN: 294

European-Non Finnish (NFE) AF: 0.0885 AC: 6016 AN: 67970

Other (OTH) AF: 0.135 AC: 286 AN: 2112

Alfa AF: 0.106 Hom.: 2410

Bravo AF: 0.144

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.13
DANN	Benign	0.40
PhyloP100		-2.5

Splicing

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

Other links and lift over

dbSNP: rs7767277; hg19: chr6-32853042;