chr17-40356143-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_000964.4(RARA):c.1306G>A(p.Gly436Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000193 in 1,555,836 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 (★).
Frequency
Consequence
NM_000964.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RARA | NM_000964.4 | c.1306G>A | p.Gly436Ser | missense_variant | 9/9 | ENST00000254066.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RARA | ENST00000254066.10 | c.1306G>A | p.Gly436Ser | missense_variant | 9/9 | 1 | NM_000964.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151886Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000655 AC: 1AN: 152740Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82862
GnomAD4 exome AF: 0.00000142 AC: 2AN: 1403834Hom.: 0 Cov.: 35 AF XY: 0.00000144 AC XY: 1AN XY: 692944
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152002Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74302
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 22, 2023 | The c.1306G>A (p.G436S) alteration is located in exon 9 (coding exon 8) of the RARA gene. This alteration results from a G to A substitution at nucleotide position 1306, causing the glycine (G) at amino acid position 436 to be replaced by a serine (S). 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