1-91716275-G-A
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Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_003243.5(TGFBR3):c.1827C>T(p.Gly609=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00069 in 1,614,126 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0036 ( 3 hom., cov: 32)
Exomes 𝑓: 0.00038 ( 5 hom. )
Consequence
TGFBR3
NM_003243.5 synonymous
NM_003243.5 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -2.09
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]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -11 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.55).
BP6
Variant 1-91716275-G-A is Benign according to our data. Variant chr1-91716275-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 3044142.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-2.09 with no splicing effect.
BS2
High AC in GnomAd4 at 555 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TGFBR3 | NM_003243.5 | c.1827C>T | p.Gly609= | synonymous_variant | 12/17 | ENST00000212355.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TGFBR3 | ENST00000212355.9 | c.1827C>T | p.Gly609= | synonymous_variant | 12/17 | 1 | NM_003243.5 | P3 |
Frequencies
GnomAD3 genomes AF: 0.00364 AC: 554AN: 152164Hom.: 3 Cov.: 32
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GnomAD3 exomes AF: 0.000916 AC: 230AN: 251216Hom.: 2 AF XY: 0.000604 AC XY: 82AN XY: 135764
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GnomAD4 exome AF: 0.000382 AC: 559AN: 1461844Hom.: 5 Cov.: 32 AF XY: 0.000329 AC XY: 239AN XY: 727222
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GnomAD4 genome AF: 0.00364 AC: 555AN: 152282Hom.: 3 Cov.: 32 AF XY: 0.00355 AC XY: 264AN XY: 74446
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
TGFBR3-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 01, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
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BayesDel_noAF
Benign
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Benign
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Benign
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RBP_regulation_power_radar
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at