8-11808709-GTCCCACTCCCACTCCCACTCCCACTCCCAC-GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCAC
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP3
The NM_001287750.2(FDFT1):c.231_232insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC(p.Ser77_Cys78insHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSer) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001287750.2 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000269 AC: 4AN: 148922Hom.: 0 Cov.: 0
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000212 AC: 29AN: 1366052Hom.: 3 Cov.: 0 AF XY: 0.0000387 AC XY: 26AN XY: 672638
GnomAD4 genome AF: 0.0000268 AC: 4AN: 149034Hom.: 0 Cov.: 0 AF XY: 0.0000275 AC XY: 2AN XY: 72636
ClinVar
Submissions by phenotype
FDFT1-related disorder Uncertain:1
The FDFT1 c.231_232insCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC variant is predicted to result in an in-frame amino acid insertion (p.Ser77_Cys78insHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSerHisSer). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at