2-26402076-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_145038.5(DRC1):c.87C>T(p.Ser29=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000539 in 1,613,140 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. S29S) has been classified as Likely benign.
Frequency
Consequence
NM_145038.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DRC1 | NM_145038.5 | c.87C>T | p.Ser29= | synonymous_variant | 1/17 | ENST00000288710.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DRC1 | ENST00000288710.7 | c.87C>T | p.Ser29= | synonymous_variant | 1/17 | 2 | NM_145038.5 | P1 | |
DRC1 | ENST00000421869.5 | c.87C>T | p.Ser29= | synonymous_variant, NMD_transcript_variant | 1/8 | 1 | |||
DRC1 | ENST00000649059.1 | c.75C>T | p.Ser25= | synonymous_variant, NMD_transcript_variant | 1/16 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 248124Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134762
GnomAD4 exome AF: 0.0000575 AC: 84AN: 1460950Hom.: 0 Cov.: 30 AF XY: 0.0000550 AC XY: 40AN XY: 726788
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74344
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 09, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at