7-150984826-T-C

Position:

• chr7-150984826-T-C

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

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

Gnomad4 AFR AF: 0.934

Gnomad4 AMR AF: 0.720

Gnomad4 ASJ AF: 0.668

Gnomad4 EAS AF: 0.888

Gnomad4 SAS AF: 0.775

Gnomad4 FIN AF: 0.656

Gnomad4 NFE AF: 0.626

Gnomad4 OTH AF: 0.700

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6951150; hg19: chr7-150681914;