rs3856155
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001367479.1(DNAH14):c.12651C>A(p.Gly4217=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000193 in 1,550,644 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G4217G) has been classified as Benign.
Frequency
Consequence
NM_001367479.1 synonymous
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH14 | NM_001367479.1 | c.12651C>A | p.Gly4217= | synonymous_variant | 79/86 | ENST00000682510.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH14 | ENST00000682510.1 | c.12651C>A | p.Gly4217= | synonymous_variant | 79/86 | NM_001367479.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151962Hom.: 0 Cov.: 31
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1398682Hom.: 0 Cov.: 50 AF XY: 0.00 AC XY: 0AN XY: 689812
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151962Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74214
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at