11-117238920-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_207343.4(RNF214):āc.427C>Gā(p.Gln143Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000508 in 1,614,066 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 (ā ).
Frequency
Consequence
NM_207343.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF214 | NM_207343.4 | c.427C>G | p.Gln143Glu | missense_variant | 3/15 | ENST00000300650.9 | |
RNF214 | NM_001077239.2 | c.427C>G | p.Gln143Glu | missense_variant | 3/15 | ||
RNF214 | NM_001278249.2 | c.153+274C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF214 | ENST00000300650.9 | c.427C>G | p.Gln143Glu | missense_variant | 3/15 | 1 | NM_207343.4 | P3 |
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000521 AC: 13AN: 249512Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135382
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461876Hom.: 0 Cov.: 33 AF XY: 0.0000303 AC XY: 22AN XY: 727234
GnomAD4 genome AF: 0.000197 AC: 30AN: 152190Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2022 | The c.427C>G (p.Q143E) alteration is located in exon 3 (coding exon 2) of the RNF214 gene. This alteration results from a C to G substitution at nucleotide position 427, causing the glutamine (Q) at amino acid position 143 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