17-31296270-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_002544.5(OMG):c.62G>A(p.Gly21Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.114 in 1,613,850 control chromosomes in the GnomAD database, including 12,075 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002544.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OMG | NM_002544.5 | c.62G>A | p.Gly21Asp | missense_variant | 2/2 | ENST00000247271.5 | |
NF1 | NM_001042492.3 | c.4836-29550C>T | intron_variant | ENST00000358273.9 | |||
NF1 | NM_000267.3 | c.4773-29550C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OMG | ENST00000247271.5 | c.62G>A | p.Gly21Asp | missense_variant | 2/2 | 1 | NM_002544.5 | P1 | |
NF1 | ENST00000358273.9 | c.4836-29550C>T | intron_variant | 1 | NM_001042492.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0812 AC: 12354AN: 152084Hom.: 686 Cov.: 32
GnomAD3 exomes AF: 0.0912 AC: 22893AN: 251078Hom.: 1328 AF XY: 0.0909 AC XY: 12336AN XY: 135738
GnomAD4 exome AF: 0.118 AC: 172364AN: 1461648Hom.: 11389 Cov.: 32 AF XY: 0.115 AC XY: 83976AN XY: 727156
GnomAD4 genome ? AF: 0.0812 AC: 12352AN: 152202Hom.: 686 Cov.: 32 AF XY: 0.0803 AC XY: 5974AN XY: 74410
ClinVar
Submissions by phenotype
OMG-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 21, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at