5-13841918-CAAAAAAAAAA-CAAAAAAAAAAA
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BA1
The NM_001369.3(DNAH5):c.5272-15dupT variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001369.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.5272-15_5272-14insT | intron_variant | Intron 32 of 78 | 1 | NM_001369.3 | ENSP00000265104.4 | |||
DNAH5 | ENST00000681290.1 | c.5227-15_5227-14insT | intron_variant | Intron 32 of 78 | ENSP00000505288.1 |
Frequencies
GnomAD3 genomes AF: 0.487 AC: 50848AN: 104496Hom.: 12441 Cov.: 0
GnomAD4 exome AF: 0.147 AC: 69437AN: 473344Hom.: 97 Cov.: 0 AF XY: 0.148 AC XY: 37774AN XY: 255706
GnomAD4 genome AF: 0.486 AC: 50832AN: 104490Hom.: 12437 Cov.: 0 AF XY: 0.479 AC XY: 22584AN XY: 47158
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1Benign:1
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This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at