chr5-34818843-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_015577.3(RAI14):c.986G>C(p.Ser329Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000971 in 1,606,622 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. S329G) has been classified as Uncertain significance.
Frequency
Consequence
NM_015577.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAI14 | NM_015577.3 | c.986G>C | p.Ser329Thr | missense_variant | 13/18 | ENST00000265109.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAI14 | ENST00000265109.8 | c.986G>C | p.Ser329Thr | missense_variant | 13/18 | 1 | NM_015577.3 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000991 AC: 15AN: 151402Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000899 AC: 22AN: 244582Hom.: 0 AF XY: 0.0000908 AC XY: 12AN XY: 132110
GnomAD4 exome AF: 0.0000969 AC: 141AN: 1455220Hom.: 0 Cov.: 29 AF XY: 0.000109 AC XY: 79AN XY: 723722
GnomAD4 genome ? AF: 0.0000991 AC: 15AN: 151402Hom.: 0 Cov.: 33 AF XY: 0.0000406 AC XY: 3AN XY: 73832
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 29, 2023 | The c.995G>C (p.S332T) alteration is located in exon 15 (coding exon 12) of the RAI14 gene. This alteration results from a G to C substitution at nucleotide position 995, causing the serine (S) at amino acid position 332 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