10-114187922-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001395205.1(TDRD1):c.91A>T(p.Asn31Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,150 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 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_001395205.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TDRD1 | NM_001395205.1 | c.91A>T | p.Asn31Tyr | missense_variant | 2/25 | ENST00000695399.1 | NP_001382134.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TDRD1 | ENST00000695399.1 | c.91A>T | p.Asn31Tyr | missense_variant | 2/25 | NM_001395205.1 | ENSP00000511878.1 | |||
TDRD1 | ENST00000251864.7 | c.91A>T | p.Asn31Tyr | missense_variant | 2/26 | 1 | ENSP00000251864.2 | |||
TDRD1 | ENST00000369282.5 | c.91A>T | p.Asn31Tyr | missense_variant | 2/25 | 5 | ENSP00000358288.1 | |||
TDRD1 | ENST00000369280.1 | c.91A>T | p.Asn31Tyr | missense_variant | 2/24 | 5 | ENSP00000358286.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250310Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135330
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1460938Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 726822
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 16, 2024 | The c.91A>T (p.N31Y) alteration is located in exon 2 (coding exon 1) of the TDRD1 gene. This alteration results from a A to T substitution at nucleotide position 91, causing the asparagine (N) at amino acid position 31 to be replaced by a tyrosine (Y). 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