3-36831582-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001329998.2(TRANK1):āc.8001G>Cā(p.Glu2667Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000626 in 1,613,588 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRANK1 | NM_001329998.2 | c.8001G>C | p.Glu2667Asp | missense_variant | 22/24 | ENST00000645898.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRANK1 | ENST00000645898.2 | c.8001G>C | p.Glu2667Asp | missense_variant | 22/24 | NM_001329998.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 248212Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134688
GnomAD4 exome AF: 0.0000630 AC: 92AN: 1461378Hom.: 0 Cov.: 31 AF XY: 0.0000702 AC XY: 51AN XY: 726936
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 06, 2023 | The c.7869G>C (p.E2623D) 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 7869, causing the glutamic acid (E) at amino acid position 2623 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