chr2-7014502-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014746.6(RNF144A):c.184G>A(p.Ala62Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000602 in 1,610,958 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 Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A62S) has been classified as Uncertain significance.
Frequency
Consequence
NM_014746.6 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 |
---|---|---|---|---|---|---|---|
RNF144A | NM_014746.6 | c.184G>A | p.Ala62Thr | missense_variant | 4/9 | ENST00000320892.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF144A | ENST00000320892.11 | c.184G>A | p.Ala62Thr | missense_variant | 4/9 | 1 | NM_014746.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000789 AC: 12AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000728 AC: 18AN: 247414Hom.: 0 AF XY: 0.0000897 AC XY: 12AN XY: 133752
GnomAD4 exome AF: 0.0000583 AC: 85AN: 1458656Hom.: 0 Cov.: 30 AF XY: 0.0000648 AC XY: 47AN XY: 725640
GnomAD4 genome ? AF: 0.0000788 AC: 12AN: 152302Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74484
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 08, 2023 | The c.184G>A (p.A62T) alteration is located in exon 4 (coding exon 2) of the RNF144A gene. This alteration results from a G to A substitution at nucleotide position 184, causing the alanine (A) at amino acid position 62 to be replaced by a threonine (T). 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