rs139673856
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6_ModerateBS1
The NM_001206927.2(DNAH8):c.11817-7G>A 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 0.000266 in 1,582,992 control chromosomes in the GnomAD database, including 1 homozygotes. 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_001206927.2 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.11817-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000327475.11 | |||
DNAH8-AS1 | NR_038401.1 | n.61-2399C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.11817-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | NM_001206927.2 | P2 | |||
DNAH8-AS1 | ENST00000416948.1 | n.53-2399C>T | intron_variant, non_coding_transcript_variant | 2 | |||||
DNAH8 | ENST00000359357.7 | c.11166-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 2 | A2 | ||||
DNAH8 | ENST00000449981.6 | c.11817-7G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00147 AC: 223AN: 152150Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000342 AC: 80AN: 234214Hom.: 0 AF XY: 0.000197 AC XY: 25AN XY: 126826
GnomAD4 exome AF: 0.000140 AC: 200AN: 1430724Hom.: 0 Cov.: 29 AF XY: 0.000120 AC XY: 85AN XY: 710818
GnomAD4 genome ? AF: 0.00145 AC: 221AN: 152268Hom.: 1 Cov.: 32 AF XY: 0.00132 AC XY: 98AN XY: 74470
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at