15-51893868-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014547.5(TMOD3):āc.550A>Gā(p.Thr184Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000571 in 1,610,908 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_014547.5 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 |
---|---|---|---|---|---|---|---|---|
TMOD3 | NM_014547.5 | c.550A>G | p.Thr184Ala | missense_variant | 6/10 | ENST00000308580.12 | NP_055362.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMOD3 | ENST00000308580.12 | c.550A>G | p.Thr184Ala | missense_variant | 6/10 | 1 | NM_014547.5 | ENSP00000308753.7 | ||
TMOD3 | ENST00000560549.5 | n.133A>G | non_coding_transcript_exon_variant | 4/12 | 1 | ENSP00000454040.1 | ||||
TMOD3 | ENST00000561438.5 | n.52A>G | non_coding_transcript_exon_variant | 1/8 | 5 | ENSP00000452939.1 | ||||
ENSG00000259201 | ENST00000558142.1 | n.229-1390T>C | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152192Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000240 AC: 6AN: 250234Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135282
GnomAD4 exome AF: 0.0000603 AC: 88AN: 1458716Hom.: 0 Cov.: 33 AF XY: 0.0000620 AC XY: 45AN XY: 725446
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152192Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 03, 2024 | The c.550A>G (p.T184A) alteration is located in exon 6 (coding exon 5) of the TMOD3 gene. This alteration results from a A to G substitution at nucleotide position 550, causing the threonine (T) at amino acid position 184 to be replaced by an alanine (A). 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