7-150532365-C-T

Variant names:

• chr7-150532365-C-T
• rs1851434

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 0.716 in 152,122 control chromosomes in the GnomAD database, including 40,136 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 0.72 (40136 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.26
• Publications: 3 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 (AFR) allele frequency at 95% confidence interval = 0.886 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: 0.716 AC: 108812 AN: 152004 Hom.: 40082 Cov.: 31

Gnomad AFR AF: 0.894

Gnomad AMI AF: 0.699

Gnomad AMR AF: 0.678

Gnomad ASJ AF: 0.595

Gnomad EAS AF: 0.745

Gnomad SAS AF: 0.744

Gnomad FIN AF: 0.768

Gnomad MID AF: 0.627

Gnomad NFE AF: 0.612

Gnomad OTH AF: 0.648

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

GnomAD4 genome AF: 0.716 AC: 108921 AN: 152122 Hom.: 40136 Cov.: 31 AF XY: 0.723 AC XY: 53756 AN XY: 74354

African (AFR) AF: 0.894 AC: 37131 AN: 41532

American (AMR) AF: 0.677 AC: 10346 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.595 AC: 2063 AN: 3466

East Asian (EAS) AF: 0.745 AC: 3852 AN: 5168

South Asian (SAS) AF: 0.743 AC: 3583 AN: 4824

European-Finnish (FIN) AF: 0.768 AC: 8118 AN: 10564

Middle Eastern (MID) AF: 0.619 AC: 182 AN: 294

European-Non Finnish (NFE) AF: 0.612 AC: 41635 AN: 67978

Other (OTH) AF: 0.652 AC: 1375 AN: 2108

Alfa AF: 0.679 Hom.: 5091

Bravo AF: 0.715

Asia WGS AF: 0.771 AC: 2682 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	1.2
DANN	Benign	0.28
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs1851434; hg19: chr7-150229453;