rs375643696
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS1
The NM_001201380.3(CNTNAP3B):c.1844del(p.Leu615ArgfsTer10) variant causes a frameshift change. The variant allele was found at a frequency of 0.00348 in 151,468 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Benign (★). Variant results in nonsense mediated mRNA decay.
Frequency
Genomes: 𝑓 0.0035 ( 0 hom., cov: 48)
Exomes 𝑓: 0.0047 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
CNTNAP3B
NM_001201380.3 frameshift
NM_001201380.3 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 6.32
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -6 ACMG points.
BP6
?
Variant 9-41960804-CA-C is Benign according to our data. Variant chr9-41960804-CA-C is described in ClinVar as [Benign]. Clinvar id is 402551.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population sas. gnomad4 allele frequency = 0.00348 (527/151468) while in subpopulation SAS AF= 0.0425 (193/4536). AF 95% confidence interval is 0.0376. There are 0 homozygotes in gnomad4. There are 319 alleles in male gnomad4 subpopulation. This position pass quality control queck.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CNTNAP3B | NM_001201380.3 | c.1844del | p.Leu615ArgfsTer10 | frameshift_variant | 12/24 | ENST00000377561.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNTNAP3B | ENST00000377561.7 | c.1844del | p.Leu615ArgfsTer10 | frameshift_variant | 12/24 | 1 | NM_001201380.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00350 AC: 530AN: 151348Hom.: 0 Cov.: 48
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00466 AC: 6718AN: 1442056Hom.: 0 Cov.: 35 AF XY: 0.00577 AC XY: 4133AN XY: 715978
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Data not reliable, filtered out with message: AS_VQSR
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 28, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - |
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at