1-161984867-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_015441.3(OLFML2B):c.1588G>T(p.Val530Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,848 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_015441.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OLFML2B | NM_015441.3 | c.1588G>T | p.Val530Leu | missense_variant | Exon 7 of 8 | ENST00000294794.8 | NP_056256.1 | |
OLFML2B | NM_001347700.2 | c.1594G>T | p.Val532Leu | missense_variant | Exon 7 of 8 | NP_001334629.1 | ||
OLFML2B | NM_001297713.2 | c.1591G>T | p.Val531Leu | missense_variant | Exon 7 of 8 | NP_001284642.1 | ||
OLFML2B | XM_011509398.3 | c.868G>T | p.Val290Leu | missense_variant | Exon 4 of 5 | XP_011507700.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OLFML2B | ENST00000294794.8 | c.1588G>T | p.Val530Leu | missense_variant | Exon 7 of 8 | 1 | NM_015441.3 | ENSP00000294794.3 | ||
OLFML2B | ENST00000367940.2 | c.1591G>T | p.Val531Leu | missense_variant | Exon 7 of 8 | 2 | ENSP00000356917.2 | |||
OLFML2B | ENST00000367938.1 | c.37G>T | p.Val13Leu | missense_variant | Exon 1 of 2 | 2 | ENSP00000356915.1 |
Frequencies
GnomAD3 genomes Cov.: 27
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461848Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727228
GnomAD4 genome Cov.: 27
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1588G>T (p.V530L) alteration is located in exon 7 (coding exon 7) of the OLFML2B gene. This alteration results from a G to T substitution at nucleotide position 1588, causing the valine (V) at amino acid position 530 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