1-218345918-A-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_003238.6(TGFB2):c.-784A>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.999 in 152,052 control chromosomes in the GnomAD database, including 75,916 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_003238.6 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TGFB2 | NM_003238.6 | c.-784A>C | 5_prime_UTR_variant | Exon 1 of 7 | ENST00000366930.9 | NP_003229.1 | ||
TGFB2 | NM_001135599.4 | c.-784A>C | 5_prime_UTR_variant | Exon 1 of 8 | NP_001129071.1 | |||
TGFB2 | NR_138148.2 | n.583A>C | non_coding_transcript_exon_variant | Exon 1 of 7 | ||||
TGFB2 | NR_138149.2 | n.583A>C | non_coding_transcript_exon_variant | Exon 1 of 8 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.999 AC: 151824AN: 151934Hom.: 75857 Cov.: 30
GnomAD4 genome AF: 0.999 AC: 151942AN: 152052Hom.: 75916 Cov.: 30 AF XY: 0.999 AC XY: 74256AN XY: 74322
ClinVar
Submissions by phenotype
Loeys-Dietz syndrome 4 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at