rs12912184

Variant summary

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

The ENST00000561674.1(ENSG00000260661):​n.41-1686C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.159 in 152,100 control chromosomes in the GnomAD database, including 2,344 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 0.16 ( 2344 hom., cov: 32)

Consequence

ENSG00000260661
ENST00000561674.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0390
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=-0.86).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.289 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
ENSG00000260661ENST00000561674.1 linkn.41-1686C>T intron_variant Intron 1 of 3 1

Frequencies

GnomAD3 genomes
AF:
0.159
AC:
24157
AN:
151982
Hom.:
2325
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0674
Gnomad AMI
AF:
0.305
Gnomad AMR
AF:
0.147
Gnomad ASJ
AF:
0.135
Gnomad EAS
AF:
0.286
Gnomad SAS
AF:
0.301
Gnomad FIN
AF:
0.299
Gnomad MID
AF:
0.102
Gnomad NFE
AF:
0.176
Gnomad OTH
AF:
0.156
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.159
AC:
24195
AN:
152100
Hom.:
2344
Cov.:
32
AF XY:
0.168
AC XY:
12517
AN XY:
74356
show subpopulations
Gnomad4 AFR
AF:
0.0673
Gnomad4 AMR
AF:
0.148
Gnomad4 ASJ
AF:
0.135
Gnomad4 EAS
AF:
0.286
Gnomad4 SAS
AF:
0.302
Gnomad4 FIN
AF:
0.299
Gnomad4 NFE
AF:
0.176
Gnomad4 OTH
AF:
0.164
Alfa
AF:
0.169
Hom.:
4664
Bravo
AF:
0.141
Asia WGS
AF:
0.301
AC:
1043
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.86
CADD
Benign
9.1
DANN
Benign
0.82

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: rs12912184; hg19: chr15-92858101; API