chr16-90037316-G-C
Variant summary
Our verdict is Benign. The variant received -9 ACMG points: 0P and 9B. BP4_StrongBP6BS1
The NM_001481.3(DRC4):c.841G>C(p.Asp281His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000427 in 1,614,028 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001481.3 missense
Scores
Clinical Significance
Conservation
Publications
- primary ciliary dyskinesia 33Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics, G2P, PanelApp Australia
- primary ciliary dyskinesiaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DRC4 | NM_001481.3 | c.841G>C | p.Asp281His | missense_variant | Exon 7 of 11 | ENST00000268699.9 | NP_001472.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000598 AC: 91AN: 152214Hom.: 1 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000570 AC: 143AN: 250794 AF XY: 0.000538 show subpopulations
GnomAD4 exome AF: 0.000409 AC: 598AN: 1461696Hom.: 1 Cov.: 31 AF XY: 0.000414 AC XY: 301AN XY: 727132 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000597 AC: 91AN: 152332Hom.: 1 Cov.: 33 AF XY: 0.000564 AC XY: 42AN XY: 74488 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 33 Uncertain:1Benign:1
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. -
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not provided Uncertain:1
In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
GAS8-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at