rs753634626
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM2PM4BS1_Supporting
The NM_032930.3(CFAP300):c.24_29dupCTTGGG(p.Gly10_Gly11insLeuGly) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000827 in 1,535,782 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032930.3 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CFAP300 | NM_032930.3 | c.24_29dupCTTGGG | p.Gly10_Gly11insLeuGly | disruptive_inframe_insertion | Exon 1 of 7 | ENST00000434758.7 | NP_116319.2 | |
CFAP300 | NM_001363505.2 | c.24_29dupCTTGGG | p.Gly10_Gly11insLeuGly | disruptive_inframe_insertion | Exon 1 of 6 | NP_001350434.1 | ||
CFAP300 | NM_001195005.2 | c.24_29dupCTTGGG | p.Gly10_Gly11insLeuGly | disruptive_inframe_insertion | Exon 1 of 4 | NP_001181934.1 | ||
CFAP300 | XM_005271713.5 | c.24_29dupCTTGGG | p.Gly10_Gly11insLeuGly | disruptive_inframe_insertion | Exon 1 of 6 | XP_005271770.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CFAP300 | ENST00000434758.7 | c.24_29dupCTTGGG | p.Gly10_Gly11insLeuGly | disruptive_inframe_insertion | Exon 1 of 7 | 2 | NM_032930.3 | ENSP00000414390.2 | ||
CFAP300 | ENST00000534360.1 | c.24_29dupCTTGGG | p.Gly10_Gly11insLeuGly | disruptive_inframe_insertion | Exon 1 of 4 | 1 | ENSP00000435482.1 | |||
CFAP300 | ENST00000530659.1 | n.27_32dupCTTGGG | non_coding_transcript_exon_variant | Exon 1 of 6 | 1 | |||||
CFAP300 | ENST00000526781.5 | c.24_29dupCTTGGG | p.Gly10_Gly11insLeuGly | disruptive_inframe_insertion | Exon 1 of 6 | 3 | ENSP00000433074.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 6AN: 136924Hom.: 0 AF XY: 0.0000672 AC XY: 5AN XY: 74362
GnomAD4 exome AF: 0.0000860 AC: 119AN: 1383640Hom.: 0 Cov.: 31 AF XY: 0.0000849 AC XY: 58AN XY: 682780
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152142Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74326
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant, c.24_29dup, results in the insertion of 2 amino acid(s) of the C11orf70 protein (p.Leu9_Gly10dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753634626, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with C11orf70-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at