6-36735318-A-C

Variant names:

• chr6-36735318-A-C
• rs236448

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 0.324 in 152,126 control chromosomes in the GnomAD database, including 8,117 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 0.32 (8117 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0250
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.371 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: 0.324 AC: 49216 AN: 152006 Hom.: 8115 Cov.: 32

Gnomad AFR AF: 0.307

Gnomad AMI AF: 0.287

Gnomad AMR AF: 0.237

Gnomad ASJ AF: 0.369

Gnomad EAS AF: 0.202

Gnomad SAS AF: 0.222

Gnomad FIN AF: 0.285

Gnomad MID AF: 0.316

Gnomad NFE AF: 0.375

Gnomad OTH AF: 0.296

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

GnomAD4 genome AF: 0.324 AC: 49242 AN: 152126 Hom.: 8117 Cov.: 32 AF XY: 0.315 AC XY: 23442 AN XY: 74378

African (AFR) AF: 0.306 AC: 12708 AN: 41474

American (AMR) AF: 0.237 AC: 3624 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.369 AC: 1281 AN: 3472

East Asian (EAS) AF: 0.201 AC: 1042 AN: 5178

South Asian (SAS) AF: 0.224 AC: 1082 AN: 4828

European-Finnish (FIN) AF: 0.285 AC: 3023 AN: 10590

Middle Eastern (MID) AF: 0.316 AC: 93 AN: 294

European-Non Finnish (NFE) AF: 0.375 AC: 25510 AN: 67974

Other (OTH) AF: 0.292 AC: 617 AN: 2112

Alfa AF: 0.357 Hom.: 39478

Bravo AF: 0.318

Asia WGS AF: 0.191 AC: 664 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	4.8
DANN	Benign	0.29
PhyloP100		-0.025

Splicing

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

Other links and lift over

dbSNP: rs236448; hg19: chr6-36703095;