4-2744891-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024309.4(TNIP2):c.712G>T(p.Val238Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000958 in 1,461,046 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024309.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNIP2 | NM_024309.4 | c.712G>T | p.Val238Leu | missense_variant | Exon 4 of 6 | ENST00000315423.12 | NP_077285.3 | |
TNIP2 | NM_001161527.2 | c.391G>T | p.Val131Leu | missense_variant | Exon 4 of 6 | NP_001154999.1 | ||
TNIP2 | NM_001292016.2 | c.658-385G>T | intron_variant | Intron 3 of 4 | NP_001278945.1 | |||
TNIP2 | XM_047416149.1 | c.337-385G>T | intron_variant | Intron 3 of 4 | XP_047272105.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461046Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 726694
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.712G>T (p.V238L) alteration is located in exon 4 (coding exon 4) of the TNIP2 gene. This alteration results from a G to T substitution at nucleotide position 712, causing the valine (V) at amino acid position 238 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.