rs800586

Variant summary

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

The ENST00000422939.1(TRPS1):​c.-356+7954C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.548 in 151,432 control chromosomes in the GnomAD database, including 27,558 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 0.55 ( 27558 hom., cov: 32)

Consequence

TRPS1
ENST00000422939.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0420
Variant links:
Genes affected
TRPS1 (HGNC:12340): (transcriptional repressor GATA binding 1) This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

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=-0.9).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.739 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
use as main transcriptn.115801679G>A intergenic_region

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
TRPS1ENST00000422939.1 linkuse as main transcriptc.-356+7954C>T intron_variant 2 ENSP00000405028.1 C9J6L7

Frequencies

GnomAD3 genomes
AF:
0.549
AC:
83005
AN:
151314
Hom.:
27567
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.174
Gnomad AMI
AF:
0.699
Gnomad AMR
AF:
0.465
Gnomad ASJ
AF:
0.806
Gnomad EAS
AF:
0.534
Gnomad SAS
AF:
0.683
Gnomad FIN
AF:
0.700
Gnomad MID
AF:
0.807
Gnomad NFE
AF:
0.745
Gnomad OTH
AF:
0.622
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.548
AC:
82984
AN:
151432
Hom.:
27558
Cov.:
32
AF XY:
0.545
AC XY:
40308
AN XY:
73988
show subpopulations
Gnomad4 AFR
AF:
0.174
Gnomad4 AMR
AF:
0.465
Gnomad4 ASJ
AF:
0.806
Gnomad4 EAS
AF:
0.532
Gnomad4 SAS
AF:
0.684
Gnomad4 FIN
AF:
0.700
Gnomad4 NFE
AF:
0.745
Gnomad4 OTH
AF:
0.622
Alfa
AF:
0.702
Hom.:
22963
Bravo
AF:
0.516
Asia WGS
AF:
0.558
AC:
1934
AN:
3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.90
CADD
Benign
1.7
DANN
Benign
0.42

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: rs800586; hg19: chr8-116813905; API