7-27227722-T-G

Variant names:

• chr7-27227722-T-G
• rs6964896

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 0.718 in 152,180 control chromosomes in the GnomAD database, including 43,097 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 (43097 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.541
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.876 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.719 AC: 109318 AN: 152062 Hom.: 43102 Cov.: 34

Gnomad AFR AF: 0.375

Gnomad AMI AF: 0.833

Gnomad AMR AF: 0.787

Gnomad ASJ AF: 0.911

Gnomad EAS AF: 0.528

Gnomad SAS AF: 0.887

Gnomad FIN AF: 0.844

Gnomad MID AF: 0.867

Gnomad NFE AF: 0.882

Gnomad OTH AF: 0.772

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

GnomAD4 genome AF: 0.718 AC: 109339 AN: 152180 Hom.: 43097 Cov.: 34 AF XY: 0.720 AC XY: 53578 AN XY: 74412

African (AFR) AF: 0.375 AC: 15547 AN: 41478

American (AMR) AF: 0.787 AC: 12044 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.911 AC: 3162 AN: 3472

East Asian (EAS) AF: 0.528 AC: 2733 AN: 5178

South Asian (SAS) AF: 0.887 AC: 4280 AN: 4826

European-Finnish (FIN) AF: 0.844 AC: 8951 AN: 10600

Middle Eastern (MID) AF: 0.861 AC: 253 AN: 294

European-Non Finnish (NFE) AF: 0.882 AC: 59971 AN: 68006

Other (OTH) AF: 0.774 AC: 1638 AN: 2116

Alfa AF: 0.762 Hom.: 7127

Bravo AF: 0.694

Asia WGS AF: 0.722 AC: 2511 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	6.3
DANN	Benign	0.57
PhyloP100		0.54

Splicing

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

Other links and lift over

dbSNP: rs6964896; hg19: chr7-27267341;