rs111033611
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PS1_ModeratePM1PM2PP3_StrongPP5
The NM_000660.7(TGFB1):āc.241T>Cā(p.Tyr81His) variant causes a missense change. The variant allele was found at a frequency of 0.000000687 in 1,455,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely pathogenicin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y81C) has been classified as Uncertain significance.
Frequency
Consequence
NM_000660.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TGFB1 | NM_000660.7 | c.241T>C | p.Tyr81His | missense_variant | 1/7 | ENST00000221930.6 | |
TGFB1 | XM_011527242.3 | c.241T>C | p.Tyr81His | missense_variant | 1/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TGFB1 | ENST00000221930.6 | c.241T>C | p.Tyr81His | missense_variant | 1/7 | 1 | NM_000660.7 | P1 | |
TMEM91 | ENST00000539627.5 | c.-30+1602A>G | intron_variant | 1 | |||||
TGFB1 | ENST00000600196.2 | c.241T>C | p.Tyr81His | missense_variant | 1/6 | 5 | |||
TGFB1 | ENST00000677934.1 | c.241T>C | p.Tyr81His | missense_variant | 1/5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455512Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 723482
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Diaphyseal dysplasia Pathogenic:1Other:1
not provided, no classification provided | literature only | GeneReviews | - | - - |
Pathogenic, no assertion criteria provided | literature only | OMIM | Nov 01, 2000 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at