3-30606689-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The XM_047449400.1(LOC105377015):c.236C>G(p.Pro79Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 388,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 5/5 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain risk allele (★).
Frequency
Consequence
XM_047449400.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105377015 | XM_047449400.1 | c.236C>G | p.Pro79Arg | missense_variant | 1/2 | ||
TGFBR2 | NM_003242.6 | c.-195G>C | 5_prime_UTR_variant | 1/7 | ENST00000295754.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TGFBR2 | ENST00000295754.10 | c.-195G>C | 5_prime_UTR_variant | 1/7 | 1 | NM_003242.6 | P1 | ||
TGFBR2 | ENST00000359013.4 | c.-195G>C | 5_prime_UTR_variant | 1/8 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152138Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000423 AC: 1AN: 236548Hom.: 0 Cov.: 3 AF XY: 0.00 AC XY: 0AN XY: 119294
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74310
ClinVar
Submissions by phenotype
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 rs925186023 with diabetic retinopathy. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at