7-45195521-C-T

Variant names:

• chr7-45195521-C-T
• rs1294908

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 0.782 in 152,084 control chromosomes in the GnomAD database, including 46,603 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 0.78 (46603 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.451
• Publications: 4 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 (SAS) allele frequency at 95% confidence interval = 0.784 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: 0.783 AC: 118944 AN: 151966 Hom.: 46585 Cov.: 31

Gnomad AFR AF: 0.771

Gnomad AMI AF: 0.823

Gnomad AMR AF: 0.766

Gnomad ASJ AF: 0.822

Gnomad EAS AF: 0.722

Gnomad SAS AF: 0.798

Gnomad FIN AF: 0.813

Gnomad MID AF: 0.759

Gnomad NFE AF: 0.790

Gnomad OTH AF: 0.780

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

GnomAD4 genome AF: 0.782 AC: 119005 AN: 152084 Hom.: 46603 Cov.: 31 AF XY: 0.784 AC XY: 58321 AN XY: 74346

African (AFR) AF: 0.770 AC: 31945 AN: 41462

American (AMR) AF: 0.766 AC: 11703 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.822 AC: 2845 AN: 3462

East Asian (EAS) AF: 0.721 AC: 3723 AN: 5162

South Asian (SAS) AF: 0.799 AC: 3848 AN: 4816

European-Finnish (FIN) AF: 0.813 AC: 8601 AN: 10582

Middle Eastern (MID) AF: 0.752 AC: 221 AN: 294

European-Non Finnish (NFE) AF: 0.790 AC: 53725 AN: 67998

Other (OTH) AF: 0.779 AC: 1645 AN: 2112

Alfa AF: 0.785 Hom.: 123131

Bravo AF: 0.777

Asia WGS AF: 0.756 AC: 2627 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	5.4
DANN	Benign	0.52
PhyloP100		0.45

Splicing

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

Other links and lift over

dbSNP: rs1294908; hg19: chr7-45235120;