chr7-8760938-C-T

Variant names:

• chr7-8760938-C-T
• rs994247

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 0.0874 in 151,992 control chromosomes in the GnomAD database, including 665 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 0.087 (665 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.11

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.124 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: 0.0873 AC: 13262 AN: 151876 Hom.: 664 Cov.: 32

Gnomad AFR AF: 0.122

Gnomad AMI AF: 0.0450

Gnomad AMR AF: 0.0773

Gnomad ASJ AF: 0.0594

Gnomad EAS AF: 0.107

Gnomad SAS AF: 0.132

Gnomad FIN AF: 0.0316

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.0736

Gnomad OTH AF: 0.0976

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

GnomAD4 genome AF: 0.0874 AC: 13279 AN: 151992 Hom.: 665 Cov.: 32 AF XY: 0.0868 AC XY: 6449 AN XY: 74278

Gnomad4 AFR AF: 0.122

Gnomad4 AMR AF: 0.0772

Gnomad4 ASJ AF: 0.0594

Gnomad4 EAS AF: 0.107

Gnomad4 SAS AF: 0.133

Gnomad4 FIN AF: 0.0316

Gnomad4 NFE AF: 0.0736

Gnomad4 OTH AF: 0.101

Alfa AF: 0.0769 Hom.: 380

Bravo AF: 0.0887

Asia WGS AF: 0.145 AC: 504 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.30
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs994247; hg19: chr7-8800568;