rs7503607
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003255.5(TIMP2):c.-269C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 151,136 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003255.5 5_prime_UTR_premature_start_codon_gain
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIMP2 | NM_003255.5 | c.-269C>T | 5_prime_UTR_premature_start_codon_gain_variant | 1/5 | ENST00000262768.11 | NP_003246.1 | ||
TIMP2 | NM_003255.5 | c.-269C>T | 5_prime_UTR_variant | 1/5 | ENST00000262768.11 | NP_003246.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TIMP2 | ENST00000262768.11 | c.-269C>T | 5_prime_UTR_premature_start_codon_gain_variant | 1/5 | 1 | NM_003255.5 | ENSP00000262768.6 | |||
TIMP2 | ENST00000262768.11 | c.-269C>T | 5_prime_UTR_variant | 1/5 | 1 | NM_003255.5 | ENSP00000262768.6 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151136Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 826Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 392
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151136Hom.: 0 Cov.: 32 AF XY: 0.0000407 AC XY: 3AN XY: 73744
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at