rs10487416

Variant names:

• chr7-120100989-T-C
• rs10487416

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 0.0514 in 152,190 control chromosomes in the GnomAD database, including 359 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 0.051 (359 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.154

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 (AFR) allele frequency at 95% confidence interval = 0.12 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: 0.0514 AC: 7814 AN: 152072 Hom.: 358 Cov.: 32

Gnomad AFR AF: 0.123

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0325

Gnomad ASJ AF: 0.0398

Gnomad EAS AF: 0.0317

Gnomad SAS AF: 0.0428

Gnomad FIN AF: 0.0436

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.0170

Gnomad OTH AF: 0.0450

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

GnomAD4 genome AF: 0.0514 AC: 7822 AN: 152190 Hom.: 359 Cov.: 32 AF XY: 0.0510 AC XY: 3794 AN XY: 74400

Gnomad4 AFR AF: 0.123

Gnomad4 AMR AF: 0.0325

Gnomad4 ASJ AF: 0.0398

Gnomad4 EAS AF: 0.0318

Gnomad4 SAS AF: 0.0426

Gnomad4 FIN AF: 0.0436

Gnomad4 NFE AF: 0.0169

Gnomad4 OTH AF: 0.0445

Alfa AF: 0.0435 Hom.: 33

Bravo AF: 0.0527

Asia WGS AF: 0.0410 AC: 143 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.8
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10487416; hg19: chr7-119741043;