NM_001129898.2:c.254-1610_254-1608delAGAinsT
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001129898.2(KRBOX4):c.254-1610_254-1608delAGAinsT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as not provided (no stars).
Frequency
Consequence
NM_001129898.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KRBOX4 | NM_001129898.2 | c.254-1610_254-1608delAGAinsT | intron_variant | Intron 5 of 5 | ENST00000344302.9 | NP_001123370.1 | ||
KRBOX4 | NM_017776.3 | c.239-1610_239-1608delAGAinsT | intron_variant | Intron 5 of 5 | NP_060246.2 | |||
KRBOX4 | NM_001129899.2 | c.254-2_254delAGAinsT | p.Asp85fs | frameshift_variant, splice_acceptor_variant, splice_region_variant, intron_variant | Exon 6 of 7 | NP_001123371.1 | ||
KRBOX4 | NM_001129900.2 | c.239-2_239delAGAinsT | p.Asp80fs | frameshift_variant, splice_acceptor_variant, splice_region_variant, intron_variant | Exon 6 of 7 | NP_001123372.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not provided Other:1
Variant interpreted as Uncertain significance and reported on 09-11-2016 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.