chr1-75794511-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000319942.8(RABGGTB):āc.857T>Cā(p.Val286Ala) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,609,826 control chromosomes in the GnomAD database, with no homozygous occurrence. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000319942.8 missense, splice_region
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RABGGTB | NM_004582.4 | c.857T>C | p.Val286Ala | missense_variant, splice_region_variant | 9/9 | ENST00000319942.8 | NP_004573.2 | |
RABGGTB | NR_073562.1 | n.1130T>C | splice_region_variant, non_coding_transcript_exon_variant | 11/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RABGGTB | ENST00000319942.8 | c.857T>C | p.Val286Ala | missense_variant, splice_region_variant | 9/9 | 1 | NM_004582.4 | ENSP00000317473.3 | ||
RABGGTB | ENST00000459697.1 | n.854T>C | splice_region_variant, non_coding_transcript_exon_variant | 2/2 | 2 | |||||
RABGGTB | ENST00000471759.5 | n.1845T>C | splice_region_variant, non_coding_transcript_exon_variant | 10/10 | 2 | |||||
RABGGTB | ENST00000496055.5 | n.3541T>C | splice_region_variant, non_coding_transcript_exon_variant | 7/7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457664Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 725008
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 13, 2024 | The c.857T>C (p.V286A) alteration is located in exon 9 (coding exon 9) of the RABGGTB gene. This alteration results from a T to C substitution at nucleotide position 857, causing the valine (V) at amino acid position 286 to be replaced by an alanine (A). 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