chr6-32710069-T-C

Variant names:

• chr6-32710069-T-C
• rs4947344

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 0.687 in 151,252 control chromosomes in the GnomAD database, including 35,998 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 0.69 (35998 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0510
• Publications: 25 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.765 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.687 AC: 103781 AN: 151132 Hom.: 35987 Cov.: 28

Gnomad AFR AF: 0.637

Gnomad AMI AF: 0.788

Gnomad AMR AF: 0.710

Gnomad ASJ AF: 0.812

Gnomad EAS AF: 0.780

Gnomad SAS AF: 0.786

Gnomad FIN AF: 0.628

Gnomad MID AF: 0.804

Gnomad NFE AF: 0.697

Gnomad OTH AF: 0.731

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

GnomAD4 genome AF: 0.687 AC: 103852 AN: 151252 Hom.: 35998 Cov.: 28 AF XY: 0.685 AC XY: 50596 AN XY: 73894

African (AFR) AF: 0.637 AC: 26224 AN: 41190

American (AMR) AF: 0.710 AC: 10785 AN: 15200

Ashkenazi Jewish (ASJ) AF: 0.812 AC: 2817 AN: 3468

East Asian (EAS) AF: 0.779 AC: 3992 AN: 5124

South Asian (SAS) AF: 0.786 AC: 3767 AN: 4794

European-Finnish (FIN) AF: 0.628 AC: 6572 AN: 10470

Middle Eastern (MID) AF: 0.796 AC: 234 AN: 294

European-Non Finnish (NFE) AF: 0.697 AC: 47215 AN: 67712

Other (OTH) AF: 0.732 AC: 1529 AN: 2090

Alfa AF: 0.694 Hom.: 36663

Bravo AF: 0.692

Asia WGS AF: 0.772 AC: 2686 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	9.5
DANN	Benign	0.72
PhyloP100		-0.051

Splicing

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

Other links and lift over

dbSNP: rs4947344; hg19: chr6-32677846; COSMIC: COSV70582399;