1-37808010-C-T
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Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_024640.4(YRDC):c.171G>A(p.Gln57=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000373 in 1,070,974 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 (★).
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 0.0000037 ( 0 hom. )
Consequence
YRDC
NM_024640.4 synonymous
NM_024640.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.379
Genes affected
YRDC (HGNC:28905): (yrdC N6-threonylcarbamoyltransferase domain containing) Predicted to enable nucleotidyltransferase activity and tRNA binding activity. Acts upstream of or within negative regulation of transport. Predicted to be located in membrane and mitochondrion. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -5 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.6).
BP6
Variant 1-37808010-C-T is Benign according to our data. Variant chr1-37808010-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 2093449.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=0.379 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
YRDC | NM_024640.4 | c.171G>A | p.Gln57= | synonymous_variant | 1/5 | ENST00000373044.3 | NP_078916.3 | |
C1orf122 | NM_198446.3 | c.-395C>T | 5_prime_UTR_variant | 1/3 | ENST00000373042.5 | NP_940848.2 | ||
C1orf122 | NM_001142726.2 | c.-451C>T | 5_prime_UTR_variant | 1/3 | NP_001136198.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
YRDC | ENST00000373044.3 | c.171G>A | p.Gln57= | synonymous_variant | 1/5 | 1 | NM_024640.4 | ENSP00000362135 | P1 | |
C1orf122 | ENST00000373042.5 | c.-395C>T | 5_prime_UTR_variant | 1/3 | 1 | NM_198446.3 | ENSP00000362133 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 genomes
Cov.:
32
GnomAD4 exome AF: 0.00000373 AC: 4AN: 1070974Hom.: 0 Cov.: 31 AF XY: 0.00000590 AC XY: 3AN XY: 508906
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31
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3
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508906
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GnomAD4 genome Cov.: 32
GnomAD4 genome
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32
Bravo
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jun 14, 2022 | - - |
Computational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at