1-91875127-A-G

Variant summary

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

The NM_003243.5(TGFBR3):​c.-114+10751T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.733 in 152,028 control chromosomes in the GnomAD database, including 41,228 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 0.73 ( 41228 hom., cov: 31)

Consequence

TGFBR3
NM_003243.5 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.165
Variant links:
Genes affected
TGFBR3 (HGNC:11774): (transforming growth factor beta receptor 3) This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]

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=-0.99).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.838 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
TGFBR3NM_003243.5 linkuse as main transcriptc.-114+10751T>C intron_variant ENST00000212355.9 NP_003234.2 Q03167-1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
TGFBR3ENST00000212355.9 linkuse as main transcriptc.-114+10751T>C intron_variant 1 NM_003243.5 ENSP00000212355.4 Q03167-1

Frequencies

GnomAD3 genomes
AF:
0.732
AC:
111270
AN:
151910
Hom.:
41168
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.845
Gnomad AMI
AF:
0.631
Gnomad AMR
AF:
0.717
Gnomad ASJ
AF:
0.704
Gnomad EAS
AF:
0.795
Gnomad SAS
AF:
0.723
Gnomad FIN
AF:
0.593
Gnomad MID
AF:
0.775
Gnomad NFE
AF:
0.688
Gnomad OTH
AF:
0.733
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.733
AC:
111387
AN:
152028
Hom.:
41228
Cov.:
31
AF XY:
0.728
AC XY:
54093
AN XY:
74292
show subpopulations
Gnomad4 AFR
AF:
0.845
Gnomad4 AMR
AF:
0.717
Gnomad4 ASJ
AF:
0.704
Gnomad4 EAS
AF:
0.796
Gnomad4 SAS
AF:
0.723
Gnomad4 FIN
AF:
0.593
Gnomad4 NFE
AF:
0.688
Gnomad4 OTH
AF:
0.735
Alfa
AF:
0.688
Hom.:
17226
Bravo
AF:
0.747
Asia WGS
AF:
0.709
AC:
2469
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.99
CADD
Benign
3.1
DANN
Benign
0.51

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: rs1192524; hg19: chr1-92340684; API