chr11-71929099-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018320.5(RNF121):c.38C>T(p.Ala13Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000226 in 1,551,404 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018320.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF121 | NM_018320.5 | c.38C>T | p.Ala13Val | missense_variant | 1/9 | ENST00000361756.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF121 | ENST00000361756.8 | c.38C>T | p.Ala13Val | missense_variant | 1/9 | 1 | NM_018320.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151990Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 5AN: 156718Hom.: 0 AF XY: 0.0000243 AC XY: 2AN XY: 82372
GnomAD4 exome AF: 0.0000236 AC: 33AN: 1399414Hom.: 0 Cov.: 31 AF XY: 0.0000232 AC XY: 16AN XY: 690200
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151990Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74218
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 03, 2021 | The c.38C>T (p.A13V) alteration is located in exon 1 (coding exon 1) of the RNF121 gene. This alteration results from a C to T substitution at nucleotide position 38, causing the alanine (A) at amino acid position 13 to be replaced by a valine (V). 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