NM_014211.3:c.115C>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014211.3(GABRP):c.115C>A(p.Pro39Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000434 in 1,614,042 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014211.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GABRP | NM_014211.3 | c.115C>A | p.Pro39Thr | missense_variant | Exon 3 of 10 | ENST00000265294.9 | NP_055026.1 | |
GABRP | NM_001291985.2 | c.115C>A | p.Pro39Thr | missense_variant | Exon 3 of 9 | NP_001278914.1 | ||
GABRP | XM_024446012.2 | c.115C>A | p.Pro39Thr | missense_variant | Exon 3 of 10 | XP_024301780.1 | ||
GABRP | XM_005265872.2 | c.-66+522C>A | intron_variant | Intron 1 of 7 | XP_005265929.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152172Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461870Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727242
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.115C>A (p.P39T) alteration is located in exon 3 (coding exon 2) of the GABRP gene. This alteration results from a C to A substitution at nucleotide position 115, causing the proline (P) at amino acid position 39 to be replaced by a threonine (T). 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