7-95348368-C-T

Position:

• chr7-95348368-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 0.0958 in 152,146 control chromosomes in the GnomAD database, including 1,148 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 0.096 (1148 hom., cov: 31)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.305

Genes affected

(HGNC:):

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 (AFR) allele frequency at 95% confidence interval = 0.216 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.95348368C>T		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.0958 AC: 14559 AN: 152028 Hom.: 1146 Cov.: 31

Gnomad AFR AF: 0.220

Gnomad AMI AF: 0.0209

Gnomad AMR AF: 0.0721

Gnomad ASJ AF: 0.0648

Gnomad EAS AF: 0.0276

Gnomad SAS AF: 0.0213

Gnomad FIN AF: 0.0236

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.0507

Gnomad OTH AF: 0.0855

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

GnomAD4 genome AF: 0.0958 AC: 14572 AN: 152146 Hom.: 1148 Cov.: 31 AF XY: 0.0908 AC XY: 6756 AN XY: 74402

Gnomad4 AFR AF: 0.219

Gnomad4 AMR AF: 0.0719

Gnomad4 ASJ AF: 0.0648

Gnomad4 EAS AF: 0.0277

Gnomad4 SAS AF: 0.0216

Gnomad4 FIN AF: 0.0236

Gnomad4 NFE AF: 0.0507

Gnomad4 OTH AF: 0.0841

Alfa AF: 0.0680 Hom.: 104

Bravo AF: 0.105

Asia WGS AF: 0.0360 AC: 126 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.7
DANN	Benign	0.28

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17883952; hg19: chr7-94977680;