chr6-46688744-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001010870.3(TDRD6):c.616C>T(p.Arg206Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000718 in 1,601,402 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_001010870.3 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 |
---|---|---|---|---|---|---|---|
TDRD6 | NM_001010870.3 | c.616C>T | p.Arg206Cys | missense_variant | 1/4 | ENST00000316081.11 | |
TDRD6 | NM_001168359.2 | c.616C>T | p.Arg206Cys | missense_variant | 1/3 | ||
TDRD6 | NR_144468.2 | n.1373-7077C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TDRD6 | ENST00000316081.11 | c.616C>T | p.Arg206Cys | missense_variant | 1/4 | 1 | NM_001010870.3 | P2 | |
TDRD6 | ENST00000544460.5 | c.616C>T | p.Arg206Cys | missense_variant | 1/3 | 2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152204Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000126 AC: 30AN: 237626Hom.: 0 AF XY: 0.000123 AC XY: 16AN XY: 130170
GnomAD4 exome AF: 0.0000731 AC: 106AN: 1449198Hom.: 0 Cov.: 30 AF XY: 0.0000652 AC XY: 47AN XY: 721368
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152204Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2022 | The c.616C>T (p.R206C) alteration is located in exon 1 (coding exon 1) of the TDRD6 gene. This alteration results from a C to T substitution at nucleotide position 616, causing the arginine (R) at amino acid position 206 to be replaced by a cysteine (C). 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