21-46138498-GCC-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_206965.2(FTCD):c.1443+8_1443+9del variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000701 in 1,426,760 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_206965.2 splice_region, 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FTCD | NM_206965.2 | c.1443+8_1443+9del | splice_region_variant, intron_variant | ENST00000397746.8 | |||
FTCD | NM_001320412.2 | c.1443+8_1443+9del | splice_region_variant, intron_variant | ||||
FTCD | NM_006657.3 | c.1443+8_1443+9del | splice_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FTCD | ENST00000397746.8 | c.1443+8_1443+9del | splice_region_variant, intron_variant | 1 | NM_206965.2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000526 AC: 1AN: 189994Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 105148
GnomAD4 exome AF: 7.01e-7 AC: 1AN: 1426760Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 708018
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at