6-36691438-C-G

Variant names:

• chr6-36691438-C-G
• rs7767246

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 0.222 in 152,092 control chromosomes in the GnomAD database, including 3,963 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 0.22 (3963 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.285
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.302 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: 0.222 AC: 33677 AN: 151974 Hom.: 3948 Cov.: 32

Gnomad AFR AF: 0.292

Gnomad AMI AF: 0.151

Gnomad AMR AF: 0.180

Gnomad ASJ AF: 0.244

Gnomad EAS AF: 0.130

Gnomad SAS AF: 0.315

Gnomad FIN AF: 0.171

Gnomad MID AF: 0.288

Gnomad NFE AF: 0.195

Gnomad OTH AF: 0.241

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

GnomAD4 genome AF: 0.222 AC: 33713 AN: 152092 Hom.: 3963 Cov.: 32 AF XY: 0.218 AC XY: 16187 AN XY: 74378

African (AFR) AF: 0.292 AC: 12095 AN: 41458

American (AMR) AF: 0.179 AC: 2743 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.244 AC: 845 AN: 3466

East Asian (EAS) AF: 0.130 AC: 671 AN: 5174

South Asian (SAS) AF: 0.315 AC: 1518 AN: 4812

European-Finnish (FIN) AF: 0.171 AC: 1807 AN: 10590

Middle Eastern (MID) AF: 0.299 AC: 88 AN: 294

European-Non Finnish (NFE) AF: 0.195 AC: 13283 AN: 67988

Other (OTH) AF: 0.249 AC: 525 AN: 2112

Alfa AF: 0.0664 Hom.: 80

Bravo AF: 0.221

Asia WGS AF: 0.269 AC: 936 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	5.3
DANN	Benign	0.77
PhyloP100		0.28

Splicing

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

Other links and lift over

dbSNP: rs7767246; hg19: chr6-36659215; COSMIC: COSV55191790;