1-151775087-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001083965.2(TDRKH):c.1514T>A(p.Val505Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000712 in 1,614,052 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001083965.2 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 |
---|---|---|---|---|---|---|---|
TDRKH | NM_001083965.2 | c.1514T>A | p.Val505Asp | missense_variant | 11/13 | ENST00000368824.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TDRKH | ENST00000368824.8 | c.1514T>A | p.Val505Asp | missense_variant | 11/13 | 1 | NM_001083965.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000854 AC: 13AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000561 AC: 14AN: 249446Hom.: 0 AF XY: 0.0000591 AC XY: 8AN XY: 135338
GnomAD4 exome AF: 0.0000698 AC: 102AN: 1461864Hom.: 0 Cov.: 32 AF XY: 0.0000784 AC XY: 57AN XY: 727236
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 06, 2021 | The c.1514T>A (p.V505D) alteration is located in exon 11 (coding exon 10) of the TDRKH gene. This alteration results from a T to A substitution at nucleotide position 1514, causing the valine (V) at amino acid position 505 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at