7-95325551-C-T

Position:

• chr7-95325551-C-T

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 0.717 in 152,060 control chromosomes in the GnomAD database, including 39,757 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 (39757 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.107

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.847 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.717 AC: 108917 AN: 151942 Hom.: 39722 Cov.: 32

Gnomad AFR AF: 0.575

Gnomad AMI AF: 0.786

Gnomad AMR AF: 0.802

Gnomad ASJ AF: 0.810

Gnomad EAS AF: 0.868

Gnomad SAS AF: 0.717

Gnomad FIN AF: 0.781

Gnomad MID AF: 0.766

Gnomad NFE AF: 0.755

Gnomad OTH AF: 0.750

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

GnomAD4 genome AF: 0.717 AC: 109005 AN: 152060 Hom.: 39757 Cov.: 32 AF XY: 0.723 AC XY: 53707 AN XY: 74318

Gnomad4 AFR AF: 0.575

Gnomad4 AMR AF: 0.802

Gnomad4 ASJ AF: 0.810

Gnomad4 EAS AF: 0.869

Gnomad4 SAS AF: 0.718

Gnomad4 FIN AF: 0.781

Gnomad4 NFE AF: 0.755

Gnomad4 OTH AF: 0.754

Alfa AF: 0.757 Hom.: 49755

Bravo AF: 0.716

Asia WGS AF: 0.800 AC: 2784 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.3
DANN	Benign	0.19

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs854573; hg19: chr7-94954863;