chr7-21901148-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001277115.2(DNAH11):c.13445G>C(p.Arg4482Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,012 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R4482G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001277115.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH11 | NM_001277115.2 | c.13445G>C | p.Arg4482Thr | missense_variant | 82/82 | ENST00000409508.8 | |
CDCA7L | NM_018719.5 | c.*1174C>G | 3_prime_UTR_variant | 10/10 | ENST00000406877.8 | ||
CDCA7L | NM_001127370.3 | c.*1174C>G | 3_prime_UTR_variant | 11/11 | |||
CDCA7L | NM_001127371.3 | c.*1174C>G | 3_prime_UTR_variant | 9/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH11 | ENST00000409508.8 | c.13445G>C | p.Arg4482Thr | missense_variant | 82/82 | 5 | NM_001277115.2 | P1 | |
CDCA7L | ENST00000406877.8 | c.*1174C>G | 3_prime_UTR_variant | 10/10 | 1 | NM_018719.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151936Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461076Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 726830
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151936Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74212
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill | Mar 07, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at