rs11790994

Variant summary

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

The ENST00000580326.2(ENSG00000228142):​n.138+16743C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.127 in 152,128 control chromosomes in the GnomAD database, including 1,511 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 ( 1511 hom., cov: 32)

Consequence

ENSG00000228142
ENST00000580326.2 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.0770
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=-0.85).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.209 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
ENSG00000228142ENST00000422343.1 linkn.88+16743C>G intron_variant Intron 1 of 1 5
ENSG00000228142ENST00000580326.2 linkn.138+16743C>G intron_variant Intron 1 of 2 3

Frequencies

GnomAD3 genomes
AF:
0.127
AC:
19307
AN:
152010
Hom.:
1503
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.213
Gnomad AMI
AF:
0.0527
Gnomad AMR
AF:
0.0982
Gnomad ASJ
AF:
0.0772
Gnomad EAS
AF:
0.000388
Gnomad SAS
AF:
0.0487
Gnomad FIN
AF:
0.120
Gnomad MID
AF:
0.0949
Gnomad NFE
AF:
0.101
Gnomad OTH
AF:
0.125
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.127
AC:
19335
AN:
152128
Hom.:
1511
Cov.:
32
AF XY:
0.126
AC XY:
9370
AN XY:
74362
show subpopulations
Gnomad4 AFR
AF:
0.213
Gnomad4 AMR
AF:
0.0980
Gnomad4 ASJ
AF:
0.0772
Gnomad4 EAS
AF:
0.000389
Gnomad4 SAS
AF:
0.0495
Gnomad4 FIN
AF:
0.120
Gnomad4 NFE
AF:
0.101
Gnomad4 OTH
AF:
0.124
Alfa
AF:
0.112
Hom.:
121
Bravo
AF:
0.128
Asia WGS
AF:
0.0330
AC:
119
AN:
3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.85
CADD
Benign
2.6
DANN
Benign
0.59

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: rs11790994; hg19: chr9-98429266; API