chr1-225042906-C-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001367479.1(DNAH14):c.1560C>T(p.Cys520Cys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.917 in 1,551,486 control chromosomes in the GnomAD database, including 663,421 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001367479.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH14 | NM_001367479.1 | c.1560C>T | p.Cys520Cys | synonymous_variant | Exon 13 of 86 | ENST00000682510.1 | NP_001354408.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH14 | ENST00000682510.1 | c.1560C>T | p.Cys520Cys | synonymous_variant | Exon 13 of 86 | NM_001367479.1 | ENSP00000508305.1 | |||
DNAH14 | ENST00000430092.5 | c.1560C>T | p.Cys520Cys | synonymous_variant | Exon 13 of 84 | 5 | ENSP00000414402.1 | |||
DNAH14 | ENST00000439375.6 | c.1560C>T | p.Cys520Cys | synonymous_variant | Exon 12 of 83 | 5 | ENSP00000392061.2 | |||
DNAH14 | ENST00000445597.6 | c.1617C>T | p.Cys539Cys | synonymous_variant | Exon 11 of 61 | 5 | ENSP00000409472.2 |
Frequencies
GnomAD3 genomes AF: 0.797 AC: 121134AN: 152008Hom.: 51668 Cov.: 31
GnomAD3 exomes AF: 0.869 AC: 136548AN: 157066Hom.: 60738 AF XY: 0.879 AC XY: 73038AN XY: 83116
GnomAD4 exome AF: 0.930 AC: 1301811AN: 1399360Hom.: 611735 Cov.: 50 AF XY: 0.931 AC XY: 642256AN XY: 690180
GnomAD4 genome AF: 0.797 AC: 121186AN: 152126Hom.: 51686 Cov.: 31 AF XY: 0.796 AC XY: 59240AN XY: 74380
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