7-150940932-T-C

Variant names:

• chr7-150940932-T-C
• rs2968855

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 0.694 in 151,990 control chromosomes in the GnomAD database, including 37,404 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 0.69 (37404 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.384

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.888 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.693 AC: 105291 AN: 151872 Hom.: 37342 Cov.: 30

Gnomad AFR AF: 0.833

Gnomad AMI AF: 0.623

Gnomad AMR AF: 0.657

Gnomad ASJ AF: 0.639

Gnomad EAS AF: 0.909

Gnomad SAS AF: 0.676

Gnomad FIN AF: 0.620

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.617

Gnomad OTH AF: 0.668

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

GnomAD4 genome AF: 0.694 AC: 105419 AN: 151990 Hom.: 37404 Cov.: 30 AF XY: 0.695 AC XY: 51601 AN XY: 74282

Gnomad4 AFR AF: 0.833

Gnomad4 AMR AF: 0.657

Gnomad4 ASJ AF: 0.639

Gnomad4 EAS AF: 0.909

Gnomad4 SAS AF: 0.676

Gnomad4 FIN AF: 0.620

Gnomad4 NFE AF: 0.617

Gnomad4 OTH AF: 0.673

Alfa AF: 0.652 Hom.: 3865

Bravo AF: 0.703

Asia WGS AF: 0.767 AC: 2666 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	6.5
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2968855; hg19: chr7-150638020;