chr12-75480964-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006851.3(GLIPR1):c.84C>G(p.Ile28Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000855 in 1,613,386 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006851.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GLIPR1 | NM_006851.3 | c.84C>G | p.Ile28Met | missense_variant | 1/6 | ENST00000266659.8 | |
GLIPR1 | XM_047428131.1 | c.84C>G | p.Ile28Met | missense_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GLIPR1 | ENST00000266659.8 | c.84C>G | p.Ile28Met | missense_variant | 1/6 | 1 | NM_006851.3 | P1 | |
GLIPR1 | ENST00000456650.7 | c.84C>G | p.Ile28Met | missense_variant | 1/6 | 1 | |||
GLIPR1 | ENST00000536703.5 | c.84C>G | p.Ile28Met | missense_variant, NMD_transcript_variant | 1/4 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000854 AC: 13AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251234Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135798
GnomAD4 exome AF: 0.0000855 AC: 125AN: 1461244Hom.: 0 Cov.: 30 AF XY: 0.0000922 AC XY: 67AN XY: 726932
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152142Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 27, 2023 | The c.84C>G (p.I28M) alteration is located in exon 1 (coding exon 1) of the GLIPR1 gene. This alteration results from a C to G substitution at nucleotide position 84, causing the isoleucine (I) at amino acid position 28 to be replaced by a methionine (M). 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