12-75506616-C-CAAAAAAAAAAA
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP6_Moderate
The NM_007043.7(KRR1):c.394-8_394-7insTTTTTTTTTTT variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0061 ( 3 hom., cov: 0)
Exomes 𝑓: 0.0013 ( 42 hom. )
Failed GnomAD Quality Control
Consequence
KRR1
NM_007043.7 splice_region, splice_polypyrimidine_tract, intron
NM_007043.7 splice_region, splice_polypyrimidine_tract, intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.0340
Genes affected
KRR1 (HGNC:5176): (KRR1 small subunit processome component homolog) Enables RNA binding activity. Predicted to be involved in rRNA processing. Located in chromosome; intercellular bridge; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
BP6
?
Variant 12-75506616-C-CAAAAAAAAAAA is Benign according to our data. Variant chr12-75506616-C-CAAAAAAAAAAA is described in ClinVar as [Likely_benign]. Clinvar id is 2643183.Status of the report is criteria_provided_single_submitter, 1 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRR1 | NM_007043.7 | c.394-8_394-7insTTTTTTTTTTT | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000229214.9 | |||
KRR1 | XM_047428133.1 | c.100-8_100-7insTTTTTTTTTTT | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRR1 | ENST00000229214.9 | c.394-8_394-7insTTTTTTTTTTT | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_007043.7 | P1 | |||
KRR1 | ENST00000438169.6 | c.394-8_394-7insTTTTTTTTTTT | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | |||||
KRR1 | ENST00000550898.1 | n.597_598insTTTTTTTTTTT | non_coding_transcript_exon_variant | 3/3 | 2 | ||||
KRR1 | ENST00000550023.5 | n.410-8_410-7insTTTTTTTTTTT | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 745AN: 122794Hom.: 3 Cov.: 0 FAILED QC
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GnomAD4 exome AF: 0.00127 AC: 1582AN: 1248436Hom.: 42 Cov.: 0 AF XY: 0.00152 AC XY: 930AN XY: 613092
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GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00608 AC: 746AN: 122772Hom.: 3 Cov.: 0 AF XY: 0.00561 AC XY: 328AN XY: 58462
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Data not reliable, filtered out with message: AS_VQSR
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jan 01, 2023 | KRR1: BP4, BS2 - |
Computational scores
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Name
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at