chr7-19202357-T-A

Variant names:

• chr7-19202357-T-A
• rs10486339

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 0.133 in 151,926 control chromosomes in the GnomAD database, including 3,097 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 0.13 (3097 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.48

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 (AFR) allele frequency at 95% confidence interval = 0.37 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: 0.133 AC: 20233 AN: 151808 Hom.: 3088 Cov.: 32

Gnomad AFR AF: 0.374

Gnomad AMI AF: 0.00987

Gnomad AMR AF: 0.0746

Gnomad ASJ AF: 0.106

Gnomad EAS AF: 0.165

Gnomad SAS AF: 0.0417

Gnomad FIN AF: 0.0392

Gnomad MID AF: 0.127

Gnomad NFE AF: 0.0227

Gnomad OTH AF: 0.105

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

GnomAD4 genome AF: 0.133 AC: 20275 AN: 151926 Hom.: 3097 Cov.: 32 AF XY: 0.131 AC XY: 9719 AN XY: 74258

Gnomad4 AFR AF: 0.374

Gnomad4 AMR AF: 0.0746

Gnomad4 ASJ AF: 0.106

Gnomad4 EAS AF: 0.166

Gnomad4 SAS AF: 0.0409

Gnomad4 FIN AF: 0.0392

Gnomad4 NFE AF: 0.0227

Gnomad4 OTH AF: 0.105

Alfa AF: 0.0881 Hom.: 236

Bravo AF: 0.148

Asia WGS AF: 0.105 AC: 365 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	6.6
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10486339; hg19: chr7-19241980;