rs6937034

Positions:

• chr6-33111989-A-G

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 0.0479 in 152,284 control chromosomes in the GnomAD database, including 587 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 0.048 (587 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.418

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.403 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0477 AC: 7265 AN: 152166 Hom.: 576 Cov.: 32

Gnomad AFR AF: 0.0448

Gnomad AMI AF: 0.0143

Gnomad AMR AF: 0.0336

Gnomad ASJ AF: 0.0383

Gnomad EAS AF: 0.417

Gnomad SAS AF: 0.0308

Gnomad FIN AF: 0.0281

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.0298

Gnomad OTH AF: 0.0492

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

GnomAD4 genome AF: 0.0479 AC: 7287 AN: 152284 Hom.: 587 Cov.: 32 AF XY: 0.0487 AC XY: 3629 AN XY: 74466

Gnomad4 AFR AF: 0.0447

Gnomad4 AMR AF: 0.0336

Gnomad4 ASJ AF: 0.0383

Gnomad4 EAS AF: 0.418

Gnomad4 SAS AF: 0.0305

Gnomad4 FIN AF: 0.0281

Gnomad4 NFE AF: 0.0298

Gnomad4 OTH AF: 0.0591

Alfa AF: 0.0433 Hom.: 803

Bravo AF: 0.0501

Asia WGS AF: 0.141 AC: 488 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.4
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6937034; hg19: chr6-33079766;