9-109036230-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_032012.4(TMEM245):c.2375C>T(p.Thr792Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000254 in 1,611,448 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_032012.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM245 | NM_032012.4 | c.2375C>T | p.Thr792Ile | missense_variant | 16/18 | ENST00000374586.8 | NP_114401.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM245 | ENST00000374586.8 | c.2375C>T | p.Thr792Ile | missense_variant | 16/18 | 1 | NM_032012.4 | ENSP00000363714.3 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151566Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 247232Hom.: 0 AF XY: 0.00000745 AC XY: 1AN XY: 134296
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1459882Hom.: 0 Cov.: 32 AF XY: 0.0000248 AC XY: 18AN XY: 726306
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151566Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73996
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 11, 2024 | The c.2375C>T (p.T792I) alteration is located in exon 16 (coding exon 16) of the TMEM245 gene. This alteration results from a C to T substitution at nucleotide position 2375, causing the threonine (T) at amino acid position 792 to be replaced by an isoleucine (I). 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