7-95331513-A-G

Position:

• chr7-95331513-A-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 0.256 in 151,996 control chromosomes in the GnomAD database, including 5,407 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 0.26 (5407 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.67

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.35 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: 0.256 AC: 38865 AN: 151878 Hom.: 5399 Cov.: 32

Gnomad AFR AF: 0.228

Gnomad AMI AF: 0.475

Gnomad AMR AF: 0.212

Gnomad ASJ AF: 0.188

Gnomad EAS AF: 0.139

Gnomad SAS AF: 0.364

Gnomad FIN AF: 0.435

Gnomad MID AF: 0.237

Gnomad NFE AF: 0.258

Gnomad OTH AF: 0.230

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

GnomAD4 genome AF: 0.256 AC: 38889 AN: 151996 Hom.: 5407 Cov.: 32 AF XY: 0.264 AC XY: 19627 AN XY: 74298

Gnomad4 AFR AF: 0.228

Gnomad4 AMR AF: 0.212

Gnomad4 ASJ AF: 0.188

Gnomad4 EAS AF: 0.139

Gnomad4 SAS AF: 0.364

Gnomad4 FIN AF: 0.435

Gnomad4 NFE AF: 0.258

Gnomad4 OTH AF: 0.235

Alfa AF: 0.243 Hom.: 6518

Bravo AF: 0.233

Asia WGS AF: 0.261 AC: 904 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	10
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs13228784; hg19: chr7-94960825;