4-122743399-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_152618.3(BBS12):c.1507G>A(p.Val503Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,614,084 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. V503L) has been classified as Uncertain significance.
Frequency
Consequence
NM_152618.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Uncertain_significance. The variant received 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BBS12 | NM_152618.3 | c.1507G>A | p.Val503Met | missense_variant | Exon 2 of 2 | ENST00000314218.8 | NP_689831.2 | |
BBS12 | NM_001178007.2 | c.1507G>A | p.Val503Met | missense_variant | Exon 3 of 3 | NP_001171478.1 | ||
BBS12 | XM_011531680.3 | c.1507G>A | p.Val503Met | missense_variant | Exon 2 of 2 | XP_011529982.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000159 AC: 4AN: 251448 AF XY: 0.00000736 show subpopulations
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461888Hom.: 0 Cov.: 35 AF XY: 0.0000234 AC XY: 17AN XY: 727246 show subpopulations
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74348 show subpopulations
ClinVar
Submissions by phenotype
Bardet-Biedl syndrome 12 Uncertain:2
This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at