X-47585009-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003254.3(TIMP1):āc.195G>Cā(p.Met65Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in ClinVar.
Frequency
Consequence
NM_003254.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIMP1 | NM_003254.3 | c.195G>C | p.Met65Ile | missense_variant | Exon 3 of 6 | ENST00000218388.9 | NP_003245.1 | |
SYN1 | NM_006950.3 | c.775-7508C>G | intron_variant | Intron 5 of 12 | ENST00000295987.13 | NP_008881.2 | ||
SYN1 | NM_133499.2 | c.775-7508C>G | intron_variant | Intron 5 of 12 | NP_598006.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TIMP1 | ENST00000218388.9 | c.195G>C | p.Met65Ile | missense_variant | Exon 3 of 6 | 1 | NM_003254.3 | ENSP00000218388.4 | ||
SYN1 | ENST00000295987.13 | c.775-7508C>G | intron_variant | Intron 5 of 12 | 2 | NM_006950.3 | ENSP00000295987.7 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 9.12e-7 AC: 1AN: 1097055Hom.: 0 Cov.: 31 AF XY: 0.00000276 AC XY: 1AN XY: 362453
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at