chr4-70196591-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_017855.4(ODAM):c.48C>T(p.Ala16Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000402 in 1,593,380 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A16A) has been classified as Benign.
Frequency
Consequence
NM_017855.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ODAM | ENST00000683306.1 | c.48C>T | p.Ala16Ala | synonymous_variant | Exon 2 of 12 | NM_017855.4 | ENSP00000507531.1 | |||
ODAM | ENST00000396094.6 | c.48C>T | p.Ala16Ala | synonymous_variant | Exon 1 of 11 | 5 | ENSP00000379401.2 | |||
ODAM | ENST00000510709.6 | c.48C>T | p.Ala16Ala | synonymous_variant | Exon 1 of 8 | 5 | ENSP00000423070.2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151812Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000248 AC: 6AN: 241788Hom.: 0 AF XY: 0.0000229 AC XY: 3AN XY: 131090
GnomAD4 exome AF: 0.0000416 AC: 60AN: 1441568Hom.: 0 Cov.: 28 AF XY: 0.0000376 AC XY: 27AN XY: 717636
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151812Hom.: 0 Cov.: 32 AF XY: 0.0000405 AC XY: 3AN XY: 74124
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at