rs2274776
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_145315.5(AFG1L):c.1204-30A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.457 in 1,148,788 control chromosomes in the GnomAD database, including 125,025 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_145315.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AFG1L | NM_145315.5 | c.1204-30A>G | intron_variant | ENST00000368977.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AFG1L | ENST00000368977.9 | c.1204-30A>G | intron_variant | 1 | NM_145315.5 | P1 | |||
ENST00000659932.1 | n.124-28214T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.520 AC: 79023AN: 151932Hom.: 21802 Cov.: 32
GnomAD3 exomes AF: 0.442 AC: 102037AN: 230620Hom.: 23826 AF XY: 0.440 AC XY: 54732AN XY: 124492
GnomAD4 exome AF: 0.448 AC: 446450AN: 996738Hom.: 103197 Cov.: 13 AF XY: 0.446 AC XY: 228895AN XY: 513482
GnomAD4 genome ? AF: 0.520 AC: 79089AN: 152050Hom.: 21828 Cov.: 32 AF XY: 0.515 AC XY: 38256AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at