chr1-236142735-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_003272.4(GPR137B):c.113C>A(p.Pro38His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003272.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPR137B | ENST00000366592.8 | c.113C>A | p.Pro38His | missense_variant | Exon 1 of 7 | 1 | NM_003272.4 | ENSP00000355551.3 | ||
GPR137B | ENST00000366591.4 | n.192C>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 | |||||
GPR137B | ENST00000419162.5 | n.113C>A | non_coding_transcript_exon_variant | Exon 1 of 5 | 5 | ENSP00000401841.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.113C>A (p.P38H) alteration is located in exon 1 (coding exon 1) of the GPR137B gene. This alteration results from a C to A substitution at nucleotide position 113, causing the proline (P) at amino acid position 38 to be replaced by a histidine (H). 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.