12-29461868-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001353179.2(OVCH1):āc.2371A>Gā(p.Lys791Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000328 in 1,613,704 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001353179.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OVCH1 | NM_001353179.2 | c.2371A>G | p.Lys791Glu | missense_variant | 19/26 | ENST00000537054.2 | NP_001340108.1 | |
OVCH1-AS1 | NR_073172.1 | n.561-25018T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OVCH1 | ENST00000537054.2 | c.2371A>G | p.Lys791Glu | missense_variant | 19/26 | 3 | NM_001353179.2 | ENSP00000445480 | P1 | |
OVCH1-AS1 | ENST00000551108.2 | n.561-25018T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 248802Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 134962
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461484Hom.: 0 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 727040
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 22, 2022 | The c.2266A>G (p.K756E) alteration is located in exon 19 (coding exon 19) of the OVCH1 gene. This alteration results from a A to G substitution at nucleotide position 2266, causing the lysine (K) at amino acid position 756 to be replaced by a glutamic acid (E). 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