rs2045732
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014290.3(TDRD7):c.449T>A(p.Val150Asp) 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. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V150A) has been classified as Benign.
Frequency
Consequence
NM_014290.3 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 |
---|---|---|---|---|---|---|---|
TDRD7 | NM_014290.3 | c.449T>A | p.Val150Asp | missense_variant | 4/17 | ENST00000355295.5 | |
TDRD7 | NM_001302884.2 | c.227T>A | p.Val76Asp | missense_variant | 3/16 | ||
TDRD7 | XM_047423111.1 | c.449T>A | p.Val150Asp | missense_variant | 4/17 | ||
TDRD7 | XM_047423113.1 | c.449T>A | p.Val150Asp | missense_variant | 4/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TDRD7 | ENST00000355295.5 | c.449T>A | p.Val150Asp | missense_variant | 4/17 | 1 | NM_014290.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 50
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at