NM_198185.7:c.1361A>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198185.7(OVCH2):c.1361A>G(p.Asp454Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000129 in 1,552,730 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198185.7 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 |
---|---|---|---|---|---|---|---|---|
OVCH2 | NM_198185.7 | c.1361A>G | p.Asp454Gly | missense_variant | Exon 12 of 16 | ENST00000533663.6 | NP_937828.3 | |
OVCH2 | XM_047426878.1 | c.1373A>G | p.Asp458Gly | missense_variant | Exon 12 of 18 | XP_047282834.1 | ||
LOC105376533 | XR_007062576.1 | n.953+2557T>C | intron_variant | Intron 4 of 10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OVCH2 | ENST00000533663.6 | c.1361A>G | p.Asp454Gly | missense_variant | Exon 12 of 16 | 5 | NM_198185.7 | ENSP00000484497.2 | ||
OVCH2 | ENST00000612000.1 | c.1361A>G | p.Asp454Gly | missense_variant | Exon 12 of 15 | 5 | ENSP00000484790.1 | |||
OVCH2 | ENST00000673880.1 | c.914A>G | p.Asp305Gly | missense_variant | Exon 8 of 12 | ENSP00000501258.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 30
GnomAD4 exome AF: 7.14e-7 AC: 1AN: 1400518Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 690872
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 30 AF XY: 0.0000134 AC XY: 1AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1361A>G (p.D454G) alteration is located in exon 13 (coding exon 13) of the OVCH2 gene. This alteration results from a A to G substitution at nucleotide position 1361, causing the aspartic acid (D) at amino acid position 454 to be replaced by a glycine (G). 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