chr12-76348317-C-T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6BP7
The NM_024685.4(BBS10):c.42G>A(p.Ala14Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000422 in 1,609,562 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_024685.4 synonymous
Scores
Clinical Significance
Conservation
Publications
- Bardet-Biedl syndrome 10Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: Myriad Women’s Health, G2P, Genomics England PanelApp, Labcorp Genetics (formerly Invitae)
- ciliopathyInheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
- Bardet-Biedl syndromeInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152204Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000381 AC: 9AN: 236420 AF XY: 0.0000388 show subpopulations
GnomAD4 exome AF: 0.0000419 AC: 61AN: 1457358Hom.: 0 Cov.: 31 AF XY: 0.0000469 AC XY: 34AN XY: 724624 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74352 show subpopulations
ClinVar
Submissions by phenotype
Bardet-Biedl syndrome Uncertain:1Benign:1
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BBS10-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at