rs121918667
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000361.3(THBD):c.158A>G(p.Asp53Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000249 in 1,605,448 control chromosomes in the GnomAD database, with no homozygous occurrence. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D53N) has been classified as Uncertain significance.
Frequency
Consequence
NM_000361.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
THBD | NM_000361.3 | c.158A>G | p.Asp53Gly | missense_variant | 1/1 | ENST00000377103.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
THBD | ENST00000377103.3 | c.158A>G | p.Asp53Gly | missense_variant | 1/1 | NM_000361.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151826Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000884 AC: 2AN: 226214Hom.: 0 AF XY: 0.0000160 AC XY: 2AN XY: 124854
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1453622Hom.: 0 Cov.: 34 AF XY: 0.00000277 AC XY: 2AN XY: 722336
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151826Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74134
ClinVar
Submissions by phenotype
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Jul 23, 2009 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at