rs10487243

Positions:

• chr7-94041217-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000415536.5(ENSG00000236453):​n.75+18310A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.141 in 152,212 control chromosomes in the GnomAD database, including 4,321 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 0.14 (4321 hom., cov: 32)
• Consequence: ENSG00000236453 ENST00000415536.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.307

Genes affected

ENSG00000236453 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.442 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC130890646	NR_186703.1	n.102+18310A>G		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ENSG00000236453	ENST00000415536.5	n.75+18310A>G		intron_variant		3

Frequencies

GnomAD3 genomes AF: 0.141 AC: 21441 AN: 152094 Hom.: 4315 Cov.: 32

Gnomad AFR AF: 0.448

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0691

Gnomad ASJ AF: 0.0294

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00642

Gnomad FIN AF: 0.00904

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.0208

Gnomad OTH AF: 0.101

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

GnomAD4 genome AF: 0.141 AC: 21473 AN: 152212 Hom.: 4321 Cov.: 32 AF XY: 0.136 AC XY: 10103 AN XY: 74440

Gnomad4 AFR AF: 0.447

Gnomad4 AMR AF: 0.0690

Gnomad4 ASJ AF: 0.0294

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00601

Gnomad4 FIN AF: 0.00904

Gnomad4 NFE AF: 0.0208

Gnomad4 OTH AF: 0.101

Alfa AF: 0.0363 Hom.: 582

Bravo AF: 0.160

Asia WGS AF: 0.0290 AC: 100 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	5.9
DANN	Benign	0.75

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10487243; hg19: chr7-93670529;