rs72657314
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6_ModerateBS1
The NM_001277115.2(DNAH11):c.4255-7C>G 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 0.000198 in 1,612,668 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 Benign (★).
Frequency
Consequence
NM_001277115.2 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.4255-7C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000409508.8 | NP_001264044.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.4255-7C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | NM_001277115.2 | ENSP00000475939 | P1 | |||
DNAH11 | ENST00000465593.1 | n.281-7C>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00105 AC: 160AN: 152014Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000237 AC: 59AN: 248566Hom.: 0 AF XY: 0.000193 AC XY: 26AN XY: 134860
GnomAD4 exome AF: 0.000108 AC: 158AN: 1460536Hom.: 0 Cov.: 30 AF XY: 0.0000977 AC XY: 71AN XY: 726536
GnomAD4 genome AF: 0.00106 AC: 162AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.00110 AC XY: 82AN XY: 74368
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 25, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at