chr11-64289192-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001170880.2(GPR137):c.1187C>T(p.Thr396Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000378 in 1,612,680 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. T396T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001170880.2 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 |
---|---|---|---|---|---|---|---|
GPR137 | NM_001170880.2 | c.1187C>T | p.Thr396Met | missense_variant | 7/7 | ENST00000438980.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPR137 | ENST00000438980.7 | c.1187C>T | p.Thr396Met | missense_variant | 7/7 | 1 | NM_001170880.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000560 AC: 14AN: 250004Hom.: 0 AF XY: 0.0000739 AC XY: 10AN XY: 135252
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1460532Hom.: 0 Cov.: 35 AF XY: 0.0000248 AC XY: 18AN XY: 726590
GnomAD4 genome AF: 0.000118 AC: 18AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 01, 2023 | The c.1255C>T (p.R419C) alteration is located in exon 9 (coding exon 9) of the GPR137 gene. This alteration results from a C to T substitution at nucleotide position 1255, causing the arginine (R) at amino acid position 419 to be replaced by a cysteine (C). 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