chr18-9522420-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_006788.4(RALBP1):āc.964A>Gā(p.Ile322Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000161 in 1,614,214 control chromosomes in the GnomAD database, including 2 homozygotes. 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 (ā ).
Frequency
Consequence
NM_006788.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RALBP1 | NM_006788.4 | c.964A>G | p.Ile322Val | missense_variant | 4/10 | ENST00000383432.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RALBP1 | ENST00000383432.8 | c.964A>G | p.Ile322Val | missense_variant | 4/10 | 1 | NM_006788.4 | P1 | |
RALBP1 | ENST00000019317.8 | c.964A>G | p.Ile322Val | missense_variant | 4/10 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000219 AC: 55AN: 250580Hom.: 0 AF XY: 0.000280 AC XY: 38AN XY: 135570
GnomAD4 exome AF: 0.000166 AC: 243AN: 1461862Hom.: 2 Cov.: 31 AF XY: 0.000201 AC XY: 146AN XY: 727234
GnomAD4 genome AF: 0.000112 AC: 17AN: 152352Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74504
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 08, 2022 | The c.964A>G (p.I322V) alteration is located in exon 4 (coding exon 3) of the RALBP1 gene. This alteration results from a A to G substitution at nucleotide position 964, causing the isoleucine (I) at amino acid position 322 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