3-120852757-C-T

Variant summary

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

The ENST00000658056.1(ENSG00000287366):​n.228-1848C>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.309 in 152,070 control chromosomes in the GnomAD database, including 8,002 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 0.31 ( 8002 hom., cov: 32)

Consequence


ENST00000658056.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.249
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=-0.76).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.429 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ENST00000658056.1 linkuse as main transcriptn.228-1848C>T intron_variant, non_coding_transcript_variant
ENST00000661060.1 linkuse as main transcriptn.946+11803G>A intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes
AF:
0.309
AC:
46920
AN:
151950
Hom.:
7990
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.434
Gnomad AMI
AF:
0.287
Gnomad AMR
AF:
0.237
Gnomad ASJ
AF:
0.282
Gnomad EAS
AF:
0.0160
Gnomad SAS
AF:
0.187
Gnomad FIN
AF:
0.328
Gnomad MID
AF:
0.250
Gnomad NFE
AF:
0.279
Gnomad OTH
AF:
0.304
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.309
AC:
46974
AN:
152070
Hom.:
8002
Cov.:
32
AF XY:
0.304
AC XY:
22621
AN XY:
74336
show subpopulations
Gnomad4 AFR
AF:
0.434
Gnomad4 AMR
AF:
0.237
Gnomad4 ASJ
AF:
0.282
Gnomad4 EAS
AF:
0.0158
Gnomad4 SAS
AF:
0.187
Gnomad4 FIN
AF:
0.328
Gnomad4 NFE
AF:
0.279
Gnomad4 OTH
AF:
0.301
Alfa
AF:
0.285
Hom.:
1133
Bravo
AF:
0.309
Asia WGS
AF:
0.113
AC:
395
AN:
3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.76
CADD
Benign
1.9
DANN
Benign
0.55

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: rs2171168; hg19: chr3-120571604; COSMIC: COSV69482919; API