1-202123546-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000367282.6(GPR37L1):āc.583C>Gā(p.Gln195Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000175 in 1,609,062 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000367282.6 missense
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 |
---|---|---|---|---|---|---|---|---|
GPR37L1 | NM_004767.5 | c.583C>G | p.Gln195Glu | missense_variant | 1/2 | ENST00000367282.6 | NP_004758.3 | |
LOC105371683 | XR_922422.3 | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPR37L1 | ENST00000367282.6 | c.583C>G | p.Gln195Glu | missense_variant | 1/2 | 1 | NM_004767.5 | ENSP00000356251 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000132 AC: 20AN: 151972Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000163 AC: 40AN: 246030Hom.: 0 AF XY: 0.000188 AC XY: 25AN XY: 132832
GnomAD4 exome AF: 0.000179 AC: 261AN: 1456972Hom.: 1 Cov.: 33 AF XY: 0.000195 AC XY: 141AN XY: 724508
GnomAD4 genome AF: 0.000132 AC: 20AN: 152090Hom.: 0 Cov.: 31 AF XY: 0.000108 AC XY: 8AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 20, 2024 | The c.583C>G (p.Q195E) alteration is located in exon 1 (coding exon 1) of the GPR37L1 gene. This alteration results from a C to G substitution at nucleotide position 583, causing the glutamine (Q) at amino acid position 195 to be replaced by a glutamic acid (E). 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