chr12-75481891-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006851.3(GLIPR1):c.232T>C(p.Ser78Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 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.232T>C | p.Ser78Pro | missense_variant | 2/6 | ENST00000266659.8 | |
GLIPR1 | XM_047428131.1 | c.232T>C | p.Ser78Pro | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GLIPR1 | ENST00000266659.8 | c.232T>C | p.Ser78Pro | missense_variant | 2/6 | 1 | NM_006851.3 | P1 | |
GLIPR1 | ENST00000456650.7 | c.232T>C | p.Ser78Pro | missense_variant | 2/6 | 1 | |||
GLIPR1 | ENST00000550491.1 | c.-121T>C | 5_prime_UTR_variant | 2/4 | 3 | ||||
GLIPR1 | ENST00000536703.5 | c.232T>C | p.Ser78Pro | missense_variant, NMD_transcript_variant | 2/4 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 28, 2023 | The c.232T>C (p.S78P) alteration is located in exon 2 (coding exon 2) of the GLIPR1 gene. This alteration results from a T to C substitution at nucleotide position 232, causing the serine (S) at amino acid position 78 to be replaced by a proline (P). 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.