6-35120454-T-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001370687.1(TCP11):c.908A>G(p.Asp303Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000231 in 1,598,854 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001370687.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TCP11 | NM_001370687.1 | c.908A>G | p.Asp303Gly | missense_variant | Exon 7 of 10 | ENST00000311875.11 | NP_001357616.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000125 AC: 3AN: 239704Hom.: 0 AF XY: 0.0000232 AC XY: 3AN XY: 129278
GnomAD4 exome AF: 0.0000235 AC: 34AN: 1446680Hom.: 0 Cov.: 30 AF XY: 0.0000209 AC XY: 15AN XY: 718130
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.947A>G (p.D316G) alteration is located in exon 7 (coding exon 7) of the TCP11 gene. This alteration results from a A to G substitution at nucleotide position 947, causing the aspartic acid (D) at amino acid position 316 to be replaced by a glycine (G). 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