chr14-88010934-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003608.4(GPR65):c.87T>G(p.Ile29Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,460,062 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_003608.4 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 |
---|---|---|---|---|---|---|---|
GPR65 | NM_003608.4 | c.87T>G | p.Ile29Met | missense_variant | 2/2 | ENST00000267549.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPR65 | ENST00000267549.5 | c.87T>G | p.Ile29Met | missense_variant | 2/2 | 1 | NM_003608.4 | P1 | |
ENST00000554433.1 | n.184A>C | non_coding_transcript_exon_variant | 3/3 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250616Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135508
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1460062Hom.: 0 Cov.: 28 AF XY: 0.0000138 AC XY: 10AN XY: 726458
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 26, 2022 | The c.87T>G (p.I29M) alteration is located in exon 2 (coding exon 1) of the GPR65 gene. This alteration results from a T to G substitution at nucleotide position 87, causing the isoleucine (I) at amino acid position 29 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