rs35194418
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_176824.3(BBS7):c.186C>T(p.Pro62=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00122 in 1,613,080 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. P62P) has been classified as Likely benign.
Frequency
Consequence
NM_176824.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BBS7 | NM_176824.3 | c.186C>T | p.Pro62= | synonymous_variant | 4/19 | ENST00000264499.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BBS7 | ENST00000264499.9 | c.186C>T | p.Pro62= | synonymous_variant | 4/19 | 1 | NM_176824.3 | P1 | |
BBS7 | ENST00000506636.1 | c.186C>T | p.Pro62= | synonymous_variant | 4/18 | 1 | |||
BBS7 | ENST00000502444.1 | n.360C>T | non_coding_transcript_exon_variant | 4/4 | 2 | ||||
BBS7 | ENST00000505692.1 | n.21C>T | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00616 AC: 934AN: 151624Hom.: 7 Cov.: 32
GnomAD3 exomes AF: 0.00179 AC: 450AN: 251110Hom.: 3 AF XY: 0.00140 AC XY: 190AN XY: 135740
GnomAD4 exome AF: 0.000711 AC: 1039AN: 1461338Hom.: 5 Cov.: 31 AF XY: 0.000604 AC XY: 439AN XY: 726962
GnomAD4 genome AF: 0.00617 AC: 936AN: 151742Hom.: 7 Cov.: 32 AF XY: 0.00607 AC XY: 450AN XY: 74120
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Benign, no assertion criteria provided | clinical testing | Clinical Genetics, Academic Medical Center | - | - - |
Bardet-Biedl syndrome 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | Jun 28, 2017 | - - |
Bardet-Biedl syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at