chr1-247451946-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004492.2(OR2B11):c.37C>T(p.Pro13Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000107 in 1,588,656 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004492.2 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 |
---|---|---|---|---|---|---|---|
OR2B11 | NM_001004492.2 | c.37C>T | p.Pro13Ser | missense_variant | 2/2 | ENST00000641149.2 | |
OR2B11 | NR_169840.1 | n.726-35C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR2B11 | ENST00000641149.2 | c.37C>T | p.Pro13Ser | missense_variant | 2/2 | NM_001004492.2 | P1 | ||
OR2B11 | ENST00000641527.1 | c.37C>T | p.Pro13Ser | missense_variant | 3/3 | P1 | |||
OR2B11 | ENST00000641613.1 | n.726-35C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000157 AC: 2AN: 127018Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000162 AC: 4AN: 247652Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134110
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461638Hom.: 0 Cov.: 39 AF XY: 0.00000963 AC XY: 7AN XY: 727146
GnomAD4 genome ? AF: 0.0000157 AC: 2AN: 127018Hom.: 0 Cov.: 33 AF XY: 0.0000162 AC XY: 1AN XY: 61670
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 14, 2022 | The c.37C>T (p.P13S) alteration is located in exon 1 (coding exon 1) of the OR2B11 gene. This alteration results from a C to T substitution at nucleotide position 37, causing the proline (P) at amino acid position 13 to be replaced by a serine (S). 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