11-117279941-G-C
Position:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_207343.4(RNF214):c.993G>C(p.Lys331Asn) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: not found (cov: 32)
Consequence
RNF214
NM_207343.4 missense
NM_207343.4 missense
Scores
1
9
9
Clinical Significance
Conservation
PhyloP100: 4.85
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF214 | NM_207343.4 | c.993G>C | p.Lys331Asn | missense_variant | 7/15 | ENST00000300650.9 | |
RNF214 | NM_001077239.2 | c.993G>C | p.Lys331Asn | missense_variant | 7/15 | ||
RNF214 | NM_001278249.2 | c.528G>C | p.Lys176Asn | missense_variant | 7/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF214 | ENST00000300650.9 | c.993G>C | p.Lys331Asn | missense_variant | 7/15 | 1 | NM_207343.4 | P3 | |
RNF214 | ENST00000531452.5 | c.993G>C | p.Lys331Asn | missense_variant | 7/15 | 1 | P3 | ||
RNF214 | ENST00000531287.5 | c.528G>C | p.Lys176Asn | missense_variant | 7/15 | 2 | A1 | ||
RNF214 | ENST00000530849.1 | c.528G>C | p.Lys176Asn | missense_variant | 6/13 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 genomes
Cov.:
32
GnomAD4 exome Cov.: 30
GnomAD4 exome
Cov.:
30
GnomAD4 genome Cov.: 32
GnomAD4 genome
Cov.:
32
ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 17, 2023 | The c.993G>C (p.K331N) alteration is located in exon 7 (coding exon 6) of the RNF214 gene. This alteration results from a G to C substitution at nucleotide position 993, causing the lysine (K) at amino acid position 331 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Pathogenic
DANN
Uncertain
DEOGEN2
Benign
T;.;T;.
Eigen
Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Uncertain
D
LIST_S2
Uncertain
D;D;.;D
M_CAP
Benign
T
MetaRNN
Uncertain
D;D;D;D
MetaSVM
Benign
T
MutationAssessor
Benign
N;.;N;.
MutationTaster
Benign
D;D;D;D
PrimateAI
Uncertain
T
PROVEAN
Benign
N;N;N;N
REVEL
Benign
Sift
Uncertain
D;D;D;D
Sift4G
Uncertain
D;D;D;D
Polyphen
D;.;D;.
Vest4
MutPred
Loss of ubiquitination at K331 (P = 0.003);.;Loss of ubiquitination at K331 (P = 0.003);.;
MVP
MPC
0.34
ClinPred
D
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.