chrX-14581408-T-TAAGC
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Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_002063.4(GLRA2):c.494+3_494+6dup variant causes a splice region, intron change. The variant allele was found at a frequency of 0.00000933 in 1,072,309 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.000027 ( 0 hom., 0 hem., cov: 22)
Exomes 𝑓: 0.0000073 ( 0 hom. 3 hem. )
Consequence
GLRA2
NM_002063.4 splice_region, intron
NM_002063.4 splice_region, intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 5.25
Genes affected
GLRA2 (HGNC:4327): (glycine receptor alpha 2) The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
High Hemizygotes in GnomAdExome4 at 3 XL gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GLRA2 | NM_002063.4 | c.494+3_494+6dup | 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.494+3_494+6dup | splice_region_variant, intron_variant | 1 | NM_002063.4 | ENSP00000218075 | A1 | |||
GLRA2 | ENST00000355020.9 | c.494+3_494+6dup | splice_region_variant, intron_variant | 1 | ENSP00000347123 | P4 | ||||
GLRA2 | ENST00000443437.6 | c.*421+3_*421+6dup | splice_region_variant, intron_variant, NMD_transcript_variant | 2 | ENSP00000387756 | |||||
GLRA2 | ENST00000415367.2 | n.745+3_745+6dup | splice_region_variant, intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000268 AC: 3AN: 111925Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 34083
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GnomAD4 exome AF: 0.00000729 AC: 7AN: 960384Hom.: 0 Cov.: 20 AF XY: 0.0000114 AC XY: 3AN XY: 264200
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GnomAD4 genome AF: 0.0000268 AC: 3AN: 111925Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 34083
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jun 01, 2019 | - - |
Computational scores
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at