rs200111443
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The ENST00000359013.4(TGFBR2):āc.136A>Cā(p.Ser46Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000201 in 1,612,766 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
ENST00000359013.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TGFBR2 | NM_003242.6 | c.94+16263A>C | intron_variant | ENST00000295754.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TGFBR2 | ENST00000359013.4 | c.136A>C | p.Ser46Arg | missense_variant | 2/8 | 1 | |||
TGFBR2 | ENST00000295754.10 | c.94+16263A>C | intron_variant | 1 | NM_003242.6 | P1 | |||
TGFBR2 | ENST00000673250.1 | n.185A>C | non_coding_transcript_exon_variant | 2/4 |
Frequencies
GnomAD3 genomes ? AF: 0.000125 AC: 19AN: 152240Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000129 AC: 32AN: 248870Hom.: 0 AF XY: 0.000104 AC XY: 14AN XY: 134730
GnomAD4 exome AF: 0.000209 AC: 305AN: 1460408Hom.: 4 Cov.: 30 AF XY: 0.000204 AC XY: 148AN XY: 726634
GnomAD4 genome ? AF: 0.000125 AC: 19AN: 152358Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74502
ClinVar
Submissions by phenotype
Familial thoracic aortic aneurysm and aortic dissection Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 07, 2023 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 23, 2020 | This variant is associated with the following publications: (PMID: 22001912) - |
Diabetic retinopathy Other:1
Uncertain risk allele, criteria provided, single submitter | research | Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic | - | Potent mutations in TGFBR2 gene encodes the transforming growth factor that have been associated with angiogenesis and diabetic retinopathy. More clinical studies are needed for stronger association. However, more evidence is required to confer the association of this particular variant rs200111443 with diabetic retinopathy. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at