chr6-32610198-C-T

Variant names:

• chr6-32610198-C-T
• rs9271172

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 0.745 in 151,620 control chromosomes in the GnomAD database, including 42,180 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 0.74 (42180 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.18
• Publications: 17 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 (EAS) allele frequency at 95% confidence interval = 0.783 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: 0.745 AC: 112815 AN: 151502 Hom.: 42145 Cov.: 31

Gnomad AFR AF: 0.767

Gnomad AMI AF: 0.687

Gnomad AMR AF: 0.788

Gnomad ASJ AF: 0.786

Gnomad EAS AF: 0.803

Gnomad SAS AF: 0.728

Gnomad FIN AF: 0.657

Gnomad MID AF: 0.864

Gnomad NFE AF: 0.729

Gnomad OTH AF: 0.774

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

GnomAD4 genome AF: 0.745 AC: 112901 AN: 151620 Hom.: 42180 Cov.: 31 AF XY: 0.742 AC XY: 54949 AN XY: 74066

African (AFR) AF: 0.767 AC: 31704 AN: 41322

American (AMR) AF: 0.788 AC: 12022 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.786 AC: 2719 AN: 3458

East Asian (EAS) AF: 0.803 AC: 4134 AN: 5146

South Asian (SAS) AF: 0.728 AC: 3508 AN: 4818

European-Finnish (FIN) AF: 0.657 AC: 6885 AN: 10482

Middle Eastern (MID) AF: 0.854 AC: 251 AN: 294

European-Non Finnish (NFE) AF: 0.729 AC: 49431 AN: 67820

Other (OTH) AF: 0.770 AC: 1626 AN: 2112

Alfa AF: 0.729 Hom.: 10992

Bravo AF: 0.759

Asia WGS AF: 0.710 AC: 2473 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	0.54
DANN	Benign	0.53
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs9271172; hg19: chr6-32577975;