rs2286305
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001372.4(DNAH9):c.12106-10C>G variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,126 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.
Frequency
Consequence
NM_001372.4 splice_polypyrimidine_tract, intron
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 |
---|---|---|---|---|---|---|---|
DNAH9 | NM_001372.4 | c.12106-10C>G | splice_polypyrimidine_tract_variant, intron_variant | ENST00000262442.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH9 | ENST00000262442.9 | c.12106-10C>G | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001372.4 | P1 | |||
DNAH9 | ENST00000608377.5 | c.1042-10C>G | splice_polypyrimidine_tract_variant, intron_variant | 1 | |||||
DNAH9 | ENST00000396001.6 | n.1569-10C>G | splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | 1 | |||||
DNAH9 | ENST00000454412.6 | c.11878-10C>G | splice_polypyrimidine_tract_variant, intron_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250842Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135552
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461126Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726756
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at