6-71886840-A-AAAG
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBS1BS2
The NM_014989.7(RIMS1):c.-182_-180dup variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00119 in 652,612 control chromosomes in the GnomAD database, including 8 homozygotes. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0019 ( 6 hom., cov: 32)
Exomes 𝑓: 0.00098 ( 2 hom. )
Consequence
RIMS1
NM_014989.7 5_prime_UTR
NM_014989.7 5_prime_UTR
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 1.05
Genes affected
RIMS1 (HGNC:17282): (regulating synaptic membrane exocytosis 1) The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
?
Variant 6-71886840-A-AAAG is Benign according to our data. Variant chr6-71886840-A-AAAG is described in ClinVar as [Likely_benign]. Clinvar id is 357823.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population amr. gnomad4 allele frequency = 0.0019 (289/152248) while in subpopulation AMR AF= 0.0174 (266/15308). AF 95% confidence interval is 0.0157. There are 6 homozygotes in gnomad4. There are 162 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High AC in GnomAd at 289 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RIMS1 | NM_014989.7 | c.-182_-180dup | 5_prime_UTR_variant | 1/34 | ENST00000521978.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RIMS1 | ENST00000521978.6 | c.-182_-180dup | 5_prime_UTR_variant | 1/34 | 1 | NM_014989.7 | A2 | ||
RIMS1 | ENST00000491071.6 | c.-182_-180dup | 5_prime_UTR_variant | 1/28 | 5 | ||||
RIMS1 | ENST00000697193.1 | c.-182_-180dup | 5_prime_UTR_variant | 1/29 | P3 | ||||
RIMS1 | ENST00000370419.6 | n.140_142dup | non_coding_transcript_exon_variant | 1/19 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00190 AC: 289AN: 152132Hom.: 6 Cov.: 32
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GnomAD4 exome AF: 0.000977 AC: 489AN: 500364Hom.: 2 Cov.: 6 AF XY: 0.000888 AC XY: 236AN XY: 265660
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GnomAD4 genome ? AF: 0.00190 AC: 289AN: 152248Hom.: 6 Cov.: 32 AF XY: 0.00218 AC XY: 162AN XY: 74462
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Cone-Rod Dystrophy, Dominant Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at