rs6937034

Variant names:

• chr6-33111989-A-G
• rs6937034

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;