rs149579879
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_003250.6(THRA):c.1386C>G(p.Asp462Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003250.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NR1D1 | NM_021724.5 | c.1646-13G>C | intron_variant | Intron 7 of 7 | ENST00000246672.4 | NP_068370.1 | ||
THRA | NM_001190919.2 | c.1386C>G | p.Asp462Glu | missense_variant | Exon 10 of 10 | NP_001177848.1 | ||
THRA | NM_003250.6 | c.1386C>G | p.Asp462Glu | missense_variant | Exon 10 of 10 | NP_003241.2 | ||
THRA | NM_001190918.2 | c.1269C>G | p.Asp423Glu | missense_variant | Exon 10 of 10 | NP_001177847.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
THRA | ENST00000264637.8 | c.1386C>G | p.Asp462Glu | missense_variant | Exon 10 of 10 | 1 | ENSP00000264637.4 | |||
THRA | ENST00000584985.5 | c.1269C>G | p.Asp423Glu | missense_variant | Exon 10 of 10 | 1 | ENSP00000463466.1 | |||
NR1D1 | ENST00000246672.4 | c.1646-13G>C | intron_variant | Intron 7 of 7 | 1 | NM_021724.5 | ENSP00000246672.3 | |||
THRA | ENST00000394121.8 | c.1386C>G | p.Asp462Glu | missense_variant | Exon 10 of 10 | 2 | ENSP00000377679.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250146Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135654
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at