1-93156385-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016040.5(TMED5):āc.386T>Cā(p.Met129Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,520 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M129K) has been classified as Uncertain significance.
Frequency
Consequence
NM_016040.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMED5 | NM_016040.5 | c.386T>C | p.Met129Thr | missense_variant | 3/4 | ENST00000370282.8 | |
TMED5 | NM_001167830.2 | c.386T>C | p.Met129Thr | missense_variant | 3/5 | ||
TMED5 | NM_001410825.1 | c.*94T>C | 3_prime_UTR_variant | 4/4 | |||
TMED5 | NR_030761.2 | n.628T>C | non_coding_transcript_exon_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMED5 | ENST00000370282.8 | c.386T>C | p.Met129Thr | missense_variant | 3/4 | 1 | NM_016040.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 152140Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461520Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727096
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at