chr11-4848614-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004758.1(OR51S1):c.595G>A(p.Glu199Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000687 in 1,456,164 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_001004758.1 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 |
---|---|---|---|---|---|---|---|
OR51S1 | NM_001004758.1 | c.595G>A | p.Glu199Lys | missense_variant | 1/1 | ENST00000322101.5 | |
MMP26 | NM_021801.5 | c.-145+81273C>T | intron_variant | ENST00000380390.6 | |||
MMP26 | NM_001384608.1 | c.-153+81273C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR51S1 | ENST00000322101.5 | c.595G>A | p.Glu199Lys | missense_variant | 1/1 | NM_001004758.1 | P1 | ||
MMP26 | ENST00000380390.6 | c.-145+81273C>T | intron_variant | 5 | NM_021801.5 | P1 | |||
MMP26 | ENST00000300762.2 | c.-153+81273C>T | intron_variant | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000819 AC: 2AN: 244342Hom.: 0 AF XY: 0.0000152 AC XY: 2AN XY: 131860
GnomAD4 exome AF: 0.00000687 AC: 10AN: 1456164Hom.: 0 Cov.: 53 AF XY: 0.00000553 AC XY: 4AN XY: 723848
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 10, 2023 | The c.595G>A (p.E199K) alteration is located in exon 1 (coding exon 1) of the OR51S1 gene. This alteration results from a G to A substitution at nucleotide position 595, causing the glutamic acid (E) at amino acid position 199 to be replaced by a lysine (K). 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