7-150940932-T-C

Variant names:

• chr7-150940932-T-C
• rs2968855

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 0.694 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
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.888 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: 0.693 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

African (AFR) AF: 0.833 AC: 34582 AN: 41498

American (AMR) AF: 0.657 AC: 10040 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.639 AC: 2215 AN: 3468

East Asian (EAS) AF: 0.909 AC: 4712 AN: 5182

South Asian (SAS) AF: 0.676 AC: 3240 AN: 4792

European-Finnish (FIN) AF: 0.620 AC: 6531 AN: 10530

Middle Eastern (MID) AF: 0.643 AC: 189 AN: 294

European-Non Finnish (NFE) AF: 0.617 AC: 41924 AN: 67934

Other (OTH) AF: 0.673 AC: 1419 AN: 2108

Alfa AF: 0.660 Hom.: 4129

Bravo AF: 0.703

Asia WGS AF: 0.767 AC: 2666 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	6.5
DANN	Benign	0.50
PhyloP100		0.38

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs2968855;

hg19: chr7-150638020;