chr7-143959990-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012369.3(OR2F1):c.20C>T(p.Thr7Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,608,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012369.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR2F1 | NM_012369.3 | c.20C>T | p.Thr7Ile | missense_variant | Exon 3 of 3 | ENST00000641412.1 | NP_036501.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR2F1 | ENST00000641412.1 | c.20C>T | p.Thr7Ile | missense_variant | Exon 3 of 3 | NM_012369.3 | ENSP00000493004.1 | |||
OR2F1 | ENST00000624504.1 | c.20C>T | p.Thr7Ile | missense_variant | Exon 1 of 1 | 6 | ENSP00000485483.1 | |||
OR2F1 | ENST00000641986.1 | n.292C>T | non_coding_transcript_exon_variant | Exon 3 of 4 | ||||||
OR2F1 | ENST00000470988.1 | n.146+882C>T | intron_variant | Intron 1 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152186Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000124 AC: 18AN: 1456726Hom.: 0 Cov.: 30 AF XY: 0.0000110 AC XY: 8AN XY: 724158
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.20C>T (p.T7I) alteration is located in exon 1 (coding exon 1) of the OR2F1 gene. This alteration results from a C to T substitution at nucleotide position 20, causing the threonine (T) at amino acid position 7 to be replaced by an isoleucine (I). 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