6-32695787-A-G

Variant names:

• chr6-32695787-A-G
• rs5000634

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 0.391 in 150,540 control chromosomes in the GnomAD database, including 11,851 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 0.39 (11851 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.231
• Publications: 51 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.65).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.511 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.391 AC: 58866 AN: 150422 Hom.: 11839 Cov.: 31

Gnomad AFR AF: 0.342

Gnomad AMI AF: 0.491

Gnomad AMR AF: 0.518

Gnomad ASJ AF: 0.484

Gnomad EAS AF: 0.528

Gnomad SAS AF: 0.306

Gnomad FIN AF: 0.374

Gnomad MID AF: 0.532

Gnomad NFE AF: 0.384

Gnomad OTH AF: 0.407

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

GnomAD4 genome AF: 0.391 AC: 58920 AN: 150540 Hom.: 11851 Cov.: 31 AF XY: 0.393 AC XY: 28841 AN XY: 73456

African (AFR) AF: 0.342 AC: 14052 AN: 41082

American (AMR) AF: 0.519 AC: 7843 AN: 15110

Ashkenazi Jewish (ASJ) AF: 0.484 AC: 1657 AN: 3424

East Asian (EAS) AF: 0.528 AC: 2679 AN: 5074

South Asian (SAS) AF: 0.303 AC: 1376 AN: 4534

European-Finnish (FIN) AF: 0.374 AC: 3922 AN: 10500

Middle Eastern (MID) AF: 0.531 AC: 155 AN: 292

European-Non Finnish (NFE) AF: 0.384 AC: 25937 AN: 67542

Other (OTH) AF: 0.411 AC: 854 AN: 2076

Alfa AF: 0.394 Hom.: 41565

Bravo AF: 0.403

Asia WGS AF: 0.431 AC: 1499 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.65
CADD	Benign	8.9
DANN	Benign	0.95
PhyloP100		0.23

Splicing

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

Other links and lift over

dbSNP: rs5000634; hg19: chr6-32663564;