17-78925057-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003255.5(TIMP2):c.32C>T(p.Ala11Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000063 in 1,110,448 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003255.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIMP2 | NM_003255.5 | c.32C>T | p.Ala11Val | missense_variant | Exon 1 of 5 | ENST00000262768.11 | NP_003246.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000144 AC: 2AN: 139004Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.000206 AC: 1AN: 4846Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 3224
GnomAD4 exome AF: 0.00000515 AC: 5AN: 971444Hom.: 0 Cov.: 29 AF XY: 0.00000872 AC XY: 4AN XY: 458522
GnomAD4 genome AF: 0.0000144 AC: 2AN: 139004Hom.: 0 Cov.: 29 AF XY: 0.0000149 AC XY: 1AN XY: 67256
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.32C>T (p.A11V) alteration is located in exon 1 (coding exon 1) of the TIMP2 gene. This alteration results from a C to T substitution at nucleotide position 32, causing the alanine (A) at amino acid position 11 to be replaced by a valine (V). 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