chr17-8340239-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_153007.5(ODF4):āc.188A>Cā(p.Asn63Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000502 in 1,613,814 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_153007.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ODF4 | NM_153007.5 | c.188A>C | p.Asn63Thr | missense_variant | 1/3 | ENST00000328248.7 | |
ODF4 | NM_001319953.2 | c.109+79A>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ODF4 | ENST00000328248.7 | c.188A>C | p.Asn63Thr | missense_variant | 1/3 | 1 | NM_153007.5 | P2 | |
ODF4 | ENST00000584943.1 | c.109+79A>C | intron_variant | 1 | A2 | ||||
ODF4 | ENST00000636237.1 | c.109+79A>C | intron_variant, NMD_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 151950Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 251254Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135778
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1461864Hom.: 0 Cov.: 34 AF XY: 0.0000316 AC XY: 23AN XY: 727226
GnomAD4 genome AF: 0.000230 AC: 35AN: 151950Hom.: 0 Cov.: 31 AF XY: 0.000202 AC XY: 15AN XY: 74208
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at