chr5-13901577-AT-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001369.3(DNAH5):c.1731-5del variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000346 in 1,446,204 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001369.3 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH5 | NM_001369.3 | c.1731-5del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000265104.5 | NP_001360.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.1731-5del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001369.3 | ENSP00000265104 | P4 | |||
DNAH5 | ENST00000681290.1 | c.1686-5del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENSP00000505288 | A1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000171 AC: 4AN: 233660Hom.: 0 AF XY: 0.0000236 AC XY: 3AN XY: 127300
GnomAD4 exome AF: 0.00000346 AC: 5AN: 1446204Hom.: 0 Cov.: 28 AF XY: 0.00000417 AC XY: 3AN XY: 719146
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at