chr4-122743764-A-G
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Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_152618.3(BBS12):āc.1872A>Gā(p.Gln624=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.204 in 1,613,900 control chromosomes in the GnomAD database, including 37,011 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Genomes: š 0.16 ( 2420 hom., cov: 33)
Exomes š: 0.21 ( 34591 hom. )
Consequence
BBS12
NM_152618.3 synonymous
NM_152618.3 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: 1.82
Genes affected
BBS12 (HGNC:26648): (Bardet-Biedl syndrome 12) The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -21 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BP6
Variant 4-122743764-A-G is Benign according to our data. Variant chr4-122743764-A-G is described in ClinVar as [Benign]. Clinvar id is 166730.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr4-122743764-A-G is described in Lovd as [Benign].
BP7
Synonymous conserved (PhyloP=1.82 with no splicing effect.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.227 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BBS12 | NM_152618.3 | c.1872A>G | p.Gln624= | synonymous_variant | 2/2 | ENST00000314218.8 | |
BBS12 | NM_001178007.2 | c.1872A>G | p.Gln624= | synonymous_variant | 3/3 | ||
BBS12 | XM_011531680.3 | c.1872A>G | p.Gln624= | synonymous_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BBS12 | ENST00000314218.8 | c.1872A>G | p.Gln624= | synonymous_variant | 2/2 | 1 | NM_152618.3 | P1 | |
BBS12 | ENST00000542236.5 | c.1872A>G | p.Gln624= | synonymous_variant | 3/3 | 2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.156 AC: 23789AN: 152134Hom.: 2420 Cov.: 33
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GnomAD3 exomes AF: 0.165 AC: 41310AN: 251120Hom.: 4237 AF XY: 0.170 AC XY: 23063AN XY: 135724
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GnomAD4 exome AF: 0.209 AC: 305500AN: 1461648Hom.: 34591 Cov.: 34 AF XY: 0.208 AC XY: 151460AN XY: 727122
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GnomAD4 genome AF: 0.156 AC: 23790AN: 152252Hom.: 2420 Cov.: 33 AF XY: 0.152 AC XY: 11303AN XY: 74448
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ClinVar
Significance: Benign
Submissions summary: Benign:9
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:3
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jan 21, 2014 | - - |
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Benign, no assertion criteria provided | clinical testing | Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ | - | - - |
Bardet-Biedl syndrome 12 Benign:3
Benign, no assertion criteria provided | clinical testing | Natera, Inc. | Sep 16, 2020 | - - |
Benign, criteria provided, single submitter | clinical testing | Pars Genome Lab | Jun 15, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 12, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
Bardet-Biedl syndrome 1 Benign:2
Benign, criteria provided, single submitter | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | Sep 21, 2015 | - - |
Benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
Bardet-Biedl syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at