7-150984826-T-C

Variant names:

• chr7-150984826-T-C
• rs6951150

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 0.738 in 152,052 control chromosomes in the GnomAD database, including 42,871 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 (42871 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.32
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.926 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: 0.737 AC: 112038 AN: 151934 Hom.: 42801 Cov.: 31

Gnomad AFR AF: 0.934

Gnomad AMI AF: 0.714

Gnomad AMR AF: 0.720

Gnomad ASJ AF: 0.668

Gnomad EAS AF: 0.888

Gnomad SAS AF: 0.776

Gnomad FIN AF: 0.656

Gnomad MID AF: 0.666

Gnomad NFE AF: 0.626

Gnomad OTH AF: 0.697

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

GnomAD4 genome AF: 0.738 AC: 112167 AN: 152052 Hom.: 42871 Cov.: 31 AF XY: 0.740 AC XY: 55007 AN XY: 74318

African (AFR) AF: 0.934 AC: 38784 AN: 41528

American (AMR) AF: 0.720 AC: 10990 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.668 AC: 2317 AN: 3470

East Asian (EAS) AF: 0.888 AC: 4575 AN: 5154

South Asian (SAS) AF: 0.775 AC: 3735 AN: 4818

European-Finnish (FIN) AF: 0.656 AC: 6920 AN: 10556

Middle Eastern (MID) AF: 0.654 AC: 191 AN: 292

European-Non Finnish (NFE) AF: 0.626 AC: 42526 AN: 67958

Other (OTH) AF: 0.700 AC: 1482 AN: 2116

Alfa AF: 0.631 Hom.: 2854

Bravo AF: 0.754

Asia WGS AF: 0.839 AC: 2917 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	1.6
DANN	Benign	0.41
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs6951150; hg19: chr7-150681914;