chr3-36831328-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001329998.2(TRANK1):āc.8255G>Cā(p.Arg2752Thr) 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 1,613,544 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001329998.2 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 |
---|---|---|---|---|---|---|---|
TRANK1 | NM_001329998.2 | c.8255G>C | p.Arg2752Thr | missense_variant | 22/24 | ENST00000645898.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRANK1 | ENST00000645898.2 | c.8255G>C | p.Arg2752Thr | missense_variant | 22/24 | NM_001329998.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248470Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134800
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461340Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726928
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 04, 2024 | The c.8123G>C (p.R2708T) alteration is located in exon 21 (coding exon 21) of the TRANK1 gene. This alteration results from a G to C substitution at nucleotide position 8123, causing the arginine (R) at amino acid position 2708 to be replaced by a threonine (T). 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