3-40462213-C-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001034996.3(RPL14):c.629C>A(p.Ala210Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000189 in 1,591,200 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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. A210T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001034996.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RPL14 | NM_001034996.3 | c.629C>A | p.Ala210Glu | missense_variant | 6/6 | ENST00000396203.7 | |
RPL14 | NM_003973.5 | c.629C>A | p.Ala210Glu | missense_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPL14 | ENST00000396203.7 | c.629C>A | p.Ala210Glu | missense_variant | 6/6 | 1 | NM_001034996.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000850 AC: 18AN: 211662Hom.: 0 AF XY: 0.0000778 AC XY: 9AN XY: 115728
GnomAD4 exome AF: 0.0000195 AC: 28AN: 1439062Hom.: 0 Cov.: 35 AF XY: 0.0000182 AC XY: 13AN XY: 715640
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.629C>A (p.A210E) alteration is located in exon 6 (coding exon 6) of the RPL14 gene. This alteration results from a C to A substitution at nucleotide position 629, causing the alanine (A) at amino acid position 210 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at