2-63056146-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_014562.4(OTX1):c.895C>A(p.His299Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,614,044 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_014562.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OTX1 | NM_014562.4 | c.895C>A | p.His299Asn | missense_variant | Exon 5 of 5 | ENST00000282549.7 | NP_055377.1 | |
OTX1 | NM_001199770.2 | c.895C>A | p.His299Asn | missense_variant | Exon 5 of 5 | NP_001186699.1 | ||
OTX1 | NR_130153.2 | n.1258C>A | non_coding_transcript_exon_variant | Exon 5 of 5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OTX1 | ENST00000282549.7 | c.895C>A | p.His299Asn | missense_variant | Exon 5 of 5 | 1 | NM_014562.4 | ENSP00000282549.2 | ||
OTX1 | ENST00000366671.7 | c.895C>A | p.His299Asn | missense_variant | Exon 5 of 5 | 3 | ENSP00000355631.3 | |||
OTX1 | ENST00000405984.8 | n.*704C>A | non_coding_transcript_exon_variant | Exon 5 of 5 | 2 | ENSP00000385782.4 | ||||
OTX1 | ENST00000405984.8 | n.*704C>A | 3_prime_UTR_variant | Exon 5 of 5 | 2 | ENSP00000385782.4 |
Frequencies
GnomAD3 genomes AF: 0.0000921 AC: 14AN: 152060Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000321 AC: 8AN: 249232Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 134916
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461866Hom.: 0 Cov.: 32 AF XY: 0.00000825 AC XY: 6AN XY: 727238
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.895C>A (p.H299N) alteration is located in exon 5 (coding exon 3) of the OTX1 gene. This alteration results from a C to A substitution at nucleotide position 895, causing the histidine (H) at amino acid position 299 to be replaced by an asparagine (N). 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