NM_018076.5:c.2610+8C>T
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_018076.5(ODAD2):c.2610+8C>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000938 in 1,599,432 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_018076.5 splice_region, intron
Scores
Clinical Significance
Conservation
Publications
- primary ciliary dyskinesia 23Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: G2P, ClinGen, Labcorp Genetics (formerly Invitae)
- primary ciliary dyskinesiaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ODAD2 | NM_018076.5 | c.2610+8C>T | splice_region_variant, intron_variant | Intron 17 of 19 | ENST00000305242.10 | NP_060546.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152174Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000319 AC: 8AN: 250392 AF XY: 0.0000370 show subpopulations
GnomAD4 exome AF: 0.00000967 AC: 14AN: 1447140Hom.: 0 Cov.: 28 AF XY: 0.00000694 AC XY: 5AN XY: 720888 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152292Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74462 show subpopulations
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 23 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at