7-22810714-C-T

Variant names:

• chr7-22810714-C-T
• rs1029741

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 0.67 in 152,074 control chromosomes in the GnomAD database, including 34,897 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 0.67 (34897 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.862

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.55).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.812 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: 0.669 AC: 101727 AN: 151956 Hom.: 34857 Cov.: 32

Gnomad AFR AF: 0.811

Gnomad AMI AF: 0.768

Gnomad AMR AF: 0.584

Gnomad ASJ AF: 0.558

Gnomad EAS AF: 0.833

Gnomad SAS AF: 0.570

Gnomad FIN AF: 0.599

Gnomad MID AF: 0.621

Gnomad NFE AF: 0.613

Gnomad OTH AF: 0.643

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

GnomAD4 genome AF: 0.670 AC: 101831 AN: 152074 Hom.: 34897 Cov.: 32 AF XY: 0.666 AC XY: 49532 AN XY: 74342

Gnomad4 AFR AF: 0.811

Gnomad4 AMR AF: 0.584

Gnomad4 ASJ AF: 0.558

Gnomad4 EAS AF: 0.833

Gnomad4 SAS AF: 0.572

Gnomad4 FIN AF: 0.599

Gnomad4 NFE AF: 0.613

Gnomad4 OTH AF: 0.648

Alfa AF: 0.608 Hom.: 36581

Bravo AF: 0.674

Asia WGS AF: 0.732 AC: 2543 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.55
CADD	Benign	7.3
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1029741; hg19: chr7-22850333;