rs72655978
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001277115.2(DNAH11):c.982+8T>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000121 in 1,565,790 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001277115.2 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.982+8T>A | splice_region_variant, intron_variant | ENST00000409508.8 | |||
LOC105375183 | XR_007060247.1 | n.283-938A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.982+8T>A | splice_region_variant, intron_variant | 5 | NM_001277115.2 | P1 | |||
DNAH11 | ENST00000483691.1 | n.186T>A | non_coding_transcript_exon_variant | 2/2 | 3 | ||||
DNAH11 | ENST00000496218.1 | n.80+8T>A | splice_region_variant, intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000210 AC: 32AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000225 AC: 44AN: 195160Hom.: 0 AF XY: 0.000278 AC XY: 29AN XY: 104174
GnomAD4 exome AF: 0.000111 AC: 157AN: 1413558Hom.: 0 Cov.: 26 AF XY: 0.000114 AC XY: 80AN XY: 700910
GnomAD4 genome ? AF: 0.000210 AC: 32AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74424
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 7 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetics and Molecular Pathology, SA Pathology | Jan 08, 2020 | - - |
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Primary ciliary dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 06, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at