12-91047344-A-G

Variant names:

• chr12-91047344-A-G
• rs10745549

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 0.818 in 151,878 control chromosomes in the GnomAD database, including 51,095 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 0.82 (51095 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.76
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.859 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: 0.818 AC: 124175 AN: 151760 Hom.: 51066 Cov.: 31

Gnomad AFR AF: 0.733

Gnomad AMI AF: 0.752

Gnomad AMR AF: 0.799

Gnomad ASJ AF: 0.824

Gnomad EAS AF: 0.803

Gnomad SAS AF: 0.776

Gnomad FIN AF: 0.908

Gnomad MID AF: 0.807

Gnomad NFE AF: 0.865

Gnomad OTH AF: 0.824

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

GnomAD4 genome AF: 0.818 AC: 124250 AN: 151878 Hom.: 51095 Cov.: 31 AF XY: 0.819 AC XY: 60809 AN XY: 74266

African (AFR) AF: 0.733 AC: 30352 AN: 41424

American (AMR) AF: 0.799 AC: 12187 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.824 AC: 2855 AN: 3464

East Asian (EAS) AF: 0.803 AC: 4111 AN: 5118

South Asian (SAS) AF: 0.776 AC: 3736 AN: 4816

European-Finnish (FIN) AF: 0.908 AC: 9610 AN: 10586

Middle Eastern (MID) AF: 0.803 AC: 236 AN: 294

European-Non Finnish (NFE) AF: 0.865 AC: 58748 AN: 67906

Other (OTH) AF: 0.821 AC: 1729 AN: 2106

Alfa AF: 0.846 Hom.: 67757

Bravo AF: 0.805

Asia WGS AF: 0.768 AC: 2670 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.88
DANN	Benign	0.26
PhyloP100		-1.8

Splicing

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

Other links and lift over

dbSNP: rs10745549; hg19: chr12-91441121; COSMIC: COSV108027282;