rs577516330
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBS1BS2
The NM_145038.5(DRC1):c.655C>T(p.Arg219Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000405 in 1,614,040 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R219H) has been classified as Uncertain significance.
Frequency
Consequence
NM_145038.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DRC1 | NM_145038.5 | c.655C>T | p.Arg219Cys | missense_variant | 5/17 | ENST00000288710.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DRC1 | ENST00000288710.7 | c.655C>T | p.Arg219Cys | missense_variant | 5/17 | 2 | NM_145038.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000224 AC: 34AN: 152104Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000859 AC: 216AN: 251456Hom.: 2 AF XY: 0.00124 AC XY: 168AN XY: 135910
GnomAD4 exome AF: 0.000424 AC: 620AN: 1461818Hom.: 9 Cov.: 30 AF XY: 0.000617 AC XY: 449AN XY: 727220
GnomAD4 genome AF: 0.000217 AC: 33AN: 152222Hom.: 0 Cov.: 31 AF XY: 0.000309 AC XY: 23AN XY: 74422
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 15, 2023 | - - |
DRC1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jun 20, 2019 | 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