rs6903130

Variant names:

• chr6-32764433-G-A
• rs6903130

Your query was ambiguous. Multiple possible variants found:

• chr6-32764433-G-A
• chr6-32764433-G-C
• chr6-32764433-G-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 0.537 in 148,420 control chromosomes in the GnomAD database, including 21,152 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 0.54 (21152 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0910
• Publications: 40 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.671 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: 0.537 AC: 79595 AN: 148310 Hom.: 21137 Cov.: 33

Gnomad AFR AF: 0.590

Gnomad AMI AF: 0.667

Gnomad AMR AF: 0.568

Gnomad ASJ AF: 0.551

Gnomad EAS AF: 0.691

Gnomad SAS AF: 0.574

Gnomad FIN AF: 0.530

Gnomad MID AF: 0.574

Gnomad NFE AF: 0.481

Gnomad OTH AF: 0.579

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

GnomAD4 genome AF: 0.537 AC: 79661 AN: 148420 Hom.: 21152 Cov.: 33 AF XY: 0.540 AC XY: 39160 AN XY: 72496

African (AFR) AF: 0.590 AC: 23725 AN: 40202

American (AMR) AF: 0.568 AC: 8399 AN: 14788

Ashkenazi Jewish (ASJ) AF: 0.551 AC: 1875 AN: 3402

East Asian (EAS) AF: 0.690 AC: 3425 AN: 4962

South Asian (SAS) AF: 0.574 AC: 2680 AN: 4670

European-Finnish (FIN) AF: 0.530 AC: 5491 AN: 10358

Middle Eastern (MID) AF: 0.594 AC: 171 AN: 288

European-Non Finnish (NFE) AF: 0.480 AC: 32099 AN: 66804

Other (OTH) AF: 0.585 AC: 1208 AN: 2064

Alfa AF: 0.514 Hom.: 36805

Asia WGS AF: 0.613 AC: 2127 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.65
DANN	Benign	0.42
PhyloP100		-0.091

Splicing

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

Other links and lift over

dbSNP: rs6903130; hg19: chr6-32732210;