rs543407739
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6_Very_StrongBP7
The NM_001369.3(DNAH5):āc.300G>Cā(p.Gly100=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000191 in 1,614,062 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. G100G) has been classified as Likely benign.
Frequency
Consequence
NM_001369.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH5 | NM_001369.3 | c.300G>C | p.Gly100= | synonymous_variant | 4/79 | ENST00000265104.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.300G>C | p.Gly100= | synonymous_variant | 4/79 | 1 | NM_001369.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152142Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000430 AC: 108AN: 251242Hom.: 0 AF XY: 0.000626 AC XY: 85AN XY: 135796
GnomAD4 exome AF: 0.000192 AC: 281AN: 1461802Hom.: 1 Cov.: 31 AF XY: 0.000292 AC XY: 212AN XY: 727202
GnomAD4 genome AF: 0.000184 AC: 28AN: 152260Hom.: 1 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74458
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 25, 2023 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 24, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at