1-225374683-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001367479.1(DNAH14):c.12319-5C>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.814 in 1,540,378 control chromosomes in the GnomAD database, including 518,046 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_001367479.1 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH14 | NM_001367479.1 | c.12319-5C>T | splice_region_variant, intron_variant | Intron 77 of 85 | ENST00000682510.1 | NP_001354408.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH14 | ENST00000682510.1 | c.12319-5C>T | splice_region_variant, intron_variant | Intron 77 of 85 | NM_001367479.1 | ENSP00000508305.1 |
Frequencies
GnomAD3 genomes AF: 0.737 AC: 111921AN: 151946Hom.: 43744 Cov.: 31
GnomAD3 exomes AF: 0.812 AC: 123258AN: 151766Hom.: 51071 AF XY: 0.806 AC XY: 64949AN XY: 80568
GnomAD4 exome AF: 0.823 AC: 1142557AN: 1388314Hom.: 474285 Cov.: 36 AF XY: 0.820 AC XY: 561059AN XY: 683934
GnomAD4 genome AF: 0.736 AC: 111977AN: 152064Hom.: 43761 Cov.: 31 AF XY: 0.738 AC XY: 54864AN XY: 74334
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at