11-112173503-C-T

Variant summary

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

The ENST00000532699.1(ENSG00000255292):​n.*55+2829C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.119 in 151,608 control chromosomes in the GnomAD database, including 1,364 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 0.12 ( 1364 hom., cov: 32)

Consequence

ENSG00000255292
ENST00000532699.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.662
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=-0.94).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.375 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
ENSG00000255292ENST00000532699.1 linkn.*55+2829C>T intron_variant Intron 5 of 5 3 ENSP00000456434.1 H3BRW5
ENSG00000255292ENST00000525987.5 linkn.431+2973C>T intron_variant Intron 4 of 5 4
ENSG00000255292ENST00000531744.5 linkn.*55+2829C>T intron_variant Intron 5 of 5 2 ENSP00000456957.1 H3BRW5

Frequencies

GnomAD3 genomes
AF:
0.119
AC:
18019
AN:
151490
Hom.:
1365
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0748
Gnomad AMI
AF:
0.138
Gnomad AMR
AF:
0.139
Gnomad ASJ
AF:
0.187
Gnomad EAS
AF:
0.388
Gnomad SAS
AF:
0.0547
Gnomad FIN
AF:
0.158
Gnomad MID
AF:
0.142
Gnomad NFE
AF:
0.115
Gnomad OTH
AF:
0.134
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.119
AC:
18040
AN:
151608
Hom.:
1364
Cov.:
32
AF XY:
0.122
AC XY:
9059
AN XY:
74026
show subpopulations
Gnomad4 AFR
AF:
0.0752
Gnomad4 AMR
AF:
0.139
Gnomad4 ASJ
AF:
0.187
Gnomad4 EAS
AF:
0.389
Gnomad4 SAS
AF:
0.0548
Gnomad4 FIN
AF:
0.158
Gnomad4 NFE
AF:
0.115
Gnomad4 OTH
AF:
0.132
Alfa
AF:
0.0480
Hom.:
42
Bravo
AF:
0.118
Asia WGS
AF:
0.177
AC:
614
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.94
CADD
Benign
1.7
DANN
Benign
0.34

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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: rs11214109; hg19: chr11-112044226; API