chrX-14532380-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002063.4(GLRA2):c.202+8C>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000292 in 1,025,891 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002063.4 splice_region, intron
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 |
---|---|---|---|---|---|---|---|---|
GLRA2 | NM_002063.4 | c.202+8C>T | splice_region_variant, intron_variant | ENST00000218075.9 | NP_002054.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GLRA2 | ENST00000218075.9 | c.202+8C>T | splice_region_variant, intron_variant | 1 | NM_002063.4 | ENSP00000218075 | A1 | |||
GLRA2 | ENST00000355020.9 | c.202+8C>T | splice_region_variant, intron_variant | 1 | ENSP00000347123 | P4 | ||||
GLRA2 | ENST00000443437.6 | c.*169+8C>T | splice_region_variant, intron_variant, NMD_transcript_variant | 2 | ENSP00000387756 | |||||
GLRA2 | ENST00000415367.2 | n.453+8C>T | splice_region_variant, intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.0000128 AC: 2AN: 156349Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 47129
GnomAD4 exome AF: 0.00000292 AC: 3AN: 1025891Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 305435
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Oct 01, 2023 | GLRA2: PM2, BP4 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at