NM_022110.4:c.229_240dupTCTCATAAGTCT
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM4BP6BS1BS2
The NM_022110.4(FKBPL):c.229_240dupTCTCATAAGTCT(p.Ser80_His81insSerHisLysSer) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00305 in 1,614,196 control chromosomes in the GnomAD database, including 103 homozygotes. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_022110.4 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FKBPL | NM_022110.4 | c.229_240dupTCTCATAAGTCT | p.Ser80_His81insSerHisLysSer | conservative_inframe_insertion | Exon 2 of 2 | ENST00000375156.4 | NP_071393.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00314 AC: 478AN: 152190Hom.: 17 Cov.: 32
GnomAD3 exomes AF: 0.00704 AC: 1770AN: 251452Hom.: 26 AF XY: 0.00702 AC XY: 954AN XY: 135918
GnomAD4 exome AF: 0.00303 AC: 4430AN: 1461888Hom.: 83 Cov.: 33 AF XY: 0.00351 AC XY: 2552AN XY: 727246
GnomAD4 genome AF: 0.00327 AC: 498AN: 152308Hom.: 20 Cov.: 32 AF XY: 0.00325 AC XY: 242AN XY: 74482
ClinVar
Submissions by phenotype
FKBPL-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at