chr4-121833309-TCTGGAA-T
Variant summary
Our verdict is Pathogenic. Variant got 13 ACMG points: 13P and 0B. PM2PM4PP3PP5_Very_Strong
The NM_176824.3(BBS7):c.1592_1597delTTCCAG(p.Val531_Pro532del) variant causes a disruptive inframe deletion change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000867 in 1,613,924 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely pathogenic (★★).
Frequency
Consequence
NM_176824.3 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 13 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BBS7 | ENST00000264499.9 | c.1592_1597delTTCCAG | p.Val531_Pro532del | disruptive_inframe_deletion | Exon 15 of 19 | 1 | NM_176824.3 | ENSP00000264499.4 | ||
BBS7 | ENST00000506636.1 | c.1592_1597delTTCCAG | p.Val531_Pro532del | disruptive_inframe_deletion | Exon 15 of 18 | 1 | ENSP00000423626.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251336Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135830
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461714Hom.: 0 AF XY: 0.0000165 AC XY: 12AN XY: 727164
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74368
ClinVar
Submissions by phenotype
Bardet-Biedl syndrome 7 Pathogenic:4
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Bardet-Biedl syndrome Pathogenic:1
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 30680). This variant is also known as 533del2aa. This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21937992, 28761321). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs587777836, gnomAD 0.01%). This variant, c.1592_1597del, results in the deletion of 2 amino acid(s) of the BBS7 protein (p.Val531_Pro532del), but otherwise preserves the integrity of the reading frame. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at