rs10515982

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000591869.1(ENSG00000267098):​n.175+14780T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0611 in 151,788 control chromosomes in the GnomAD database, including 713 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 0.061 ( 713 hom., cov: 31)

Consequence

ENSG00000267098
ENST00000591869.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.501
Variant links:
Genes affected

Genome browser will be placed here

ACMG classification

Classification made for transcript

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 = 0.174 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
ENSG00000267098ENST00000591869.1 linkn.175+14780T>C intron_variant Intron 4 of 7 4
ENSG00000267098ENST00000655645.1 linkn.111+14780T>C intron_variant Intron 3 of 6

Frequencies

GnomAD3 genomes
AF:
0.0608
AC:
9225
AN:
151672
Hom.:
703
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.176
Gnomad AMI
AF:
0.00658
Gnomad AMR
AF:
0.0394
Gnomad ASJ
AF:
0.0168
Gnomad EAS
AF:
0.0222
Gnomad SAS
AF:
0.0160
Gnomad FIN
AF:
0.00274
Gnomad MID
AF:
0.0348
Gnomad NFE
AF:
0.0136
Gnomad OTH
AF:
0.0605
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0611
AC:
9269
AN:
151788
Hom.:
713
Cov.:
31
AF XY:
0.0596
AC XY:
4420
AN XY:
74210
show subpopulations
Gnomad4 AFR
AF:
0.177
Gnomad4 AMR
AF:
0.0393
Gnomad4 ASJ
AF:
0.0168
Gnomad4 EAS
AF:
0.0223
Gnomad4 SAS
AF:
0.0158
Gnomad4 FIN
AF:
0.00274
Gnomad4 NFE
AF:
0.0136
Gnomad4 OTH
AF:
0.0598
Alfa
AF:
0.00945
Hom.:
7
Bravo
AF:
0.0701
Asia WGS
AF:
0.0340
AC:
119
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
0.18
DANN
Benign
0.37

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs10515982; hg19: chr18-58424389; API