chr6-167156967-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005299.3(GPR31):c.865T>C(p.Phe289Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,886 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005299.3 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 |
---|---|---|---|---|---|---|---|---|---|---|
GPR31 | ENST00000366834.2 | c.865T>C | p.Phe289Leu | missense_variant | Exon 1 of 1 | 6 | NM_005299.3 | ENSP00000355799.2 | ||
ENSG00000291286 | ENST00000486697.2 | n.122+6894A>G | intron_variant | Intron 2 of 3 | 5 | |||||
ENSG00000291286 | ENST00000539001.6 | n.369-7434A>G | intron_variant | Intron 2 of 4 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461886Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727244
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.865T>C (p.F289L) alteration is located in exon 1 (coding exon 1) of the GPR31 gene. This alteration results from a T to C substitution at nucleotide position 865, causing the phenylalanine (F) at amino acid position 289 to be replaced by a leucine (L). 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.