NM_001206927.2:c.-9C>T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001206927.2(DNAH8):c.-9C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000171 in 1,570,864 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001206927.2 5_prime_UTR_premature_start_codon_gain
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.-9C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 93 | ENST00000327475.11 | NP_001193856.1 | ||
DNAH8 | NM_001206927.2 | c.-9C>T | 5_prime_UTR_variant | Exon 2 of 93 | ENST00000327475.11 | NP_001193856.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475 | c.-9C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 93 | 5 | NM_001206927.2 | ENSP00000333363.7 | |||
DNAH8 | ENST00000327475 | c.-9C>T | 5_prime_UTR_variant | Exon 2 of 93 | 5 | NM_001206927.2 | ENSP00000333363.7 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000710 AC: 15AN: 211296Hom.: 0 AF XY: 0.0000258 AC XY: 3AN XY: 116370
GnomAD4 exome AF: 0.000180 AC: 256AN: 1418692Hom.: 0 Cov.: 31 AF XY: 0.000159 AC XY: 112AN XY: 702532
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74330
ClinVar
Submissions by phenotype
DNAH8-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at