7-27227722-T-G

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 0.718 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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.719 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

Gnomad4 AFR AF: 0.375

Gnomad4 AMR AF: 0.787

Gnomad4 ASJ AF: 0.911

Gnomad4 EAS AF: 0.528

Gnomad4 SAS AF: 0.887

Gnomad4 FIN AF: 0.844

Gnomad4 NFE AF: 0.882

Gnomad4 OTH AF: 0.774

Alfa AF: 0.775 Hom.: 7064

Bravo AF: 0.694

Asia WGS AF: 0.722 AC: 2511 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
Cadd	Benign	6.3
Dann	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6964896; hg19: chr7-27267341;