rs140990828
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014822.4(SEC24D):c.2959-9_2959-6delTTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000466 in 1,287,544 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_014822.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SEC24D | NM_014822.4 | c.2959-9_2959-6delTTTT | splice_region_variant, intron_variant | Intron 22 of 22 | ENST00000280551.11 | NP_055637.2 | ||
SEC24D | NM_001318066.2 | c.2962-9_2962-6delTTTT | splice_region_variant, intron_variant | Intron 22 of 22 | NP_001304995.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SEC24D | ENST00000280551.11 | c.2959-9_2959-6delTTTT | splice_region_variant, intron_variant | Intron 22 of 22 | 1 | NM_014822.4 | ENSP00000280551.6 | |||
SEC24D | ENST00000511481.5 | c.1852-9_1852-6delTTTT | splice_region_variant, intron_variant | Intron 15 of 15 | 1 | ENSP00000425491.1 | ||||
SEC24D | ENST00000502830.1 | n.288-9_288-6delTTTT | splice_region_variant, intron_variant | Intron 1 of 1 | 2 | |||||
SEC24D | ENST00000505134.5 | n.3090-9_3090-6delTTTT | splice_region_variant, intron_variant | Intron 17 of 17 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000286 AC: 4AN: 139688Hom.: 0 AF XY: 0.0000263 AC XY: 2AN XY: 75930
GnomAD4 exome AF: 0.00000466 AC: 6AN: 1287544Hom.: 0 AF XY: 0.00000313 AC XY: 2AN XY: 638828
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at