chr17-6433957-G-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_014336.5(AIPL1):c.238C>A(p.Arg80=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000889 in 1,461,724 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. R80R) has been classified as Likely benign.
Frequency
Consequence
NM_014336.5 synonymous
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AIPL1 | NM_014336.5 | c.238C>A | p.Arg80= | synonymous_variant | 2/6 | ENST00000381129.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AIPL1 | ENST00000381129.8 | c.238C>A | p.Arg80= | synonymous_variant | 2/6 | 1 | NM_014336.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 250974Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135660
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461724Hom.: 0 Cov.: 33 AF XY: 0.0000151 AC XY: 11AN XY: 727144
GnomAD4 genome ? Cov.: 30
ClinVar
Submissions by phenotype
Leber congenital amaurosis 4 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 28, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at