rs8187974
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_000689.5(ALDH1A1):c.1200+8G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0105 in 1,613,682 control chromosomes in the GnomAD database, including 121 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_000689.5 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALDH1A1 | NM_000689.5 | c.1200+8G>T | splice_region_variant, intron_variant | ENST00000297785.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH1A1 | ENST00000297785.8 | c.1200+8G>T | splice_region_variant, intron_variant | 1 | NM_000689.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00684 AC: 1040AN: 152130Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00717 AC: 1799AN: 250916Hom.: 8 AF XY: 0.00768 AC XY: 1042AN XY: 135608
GnomAD4 exome AF: 0.0109 AC: 15946AN: 1461434Hom.: 116 Cov.: 31 AF XY: 0.0108 AC XY: 7872AN XY: 727012
GnomAD4 genome ? AF: 0.00684 AC: 1041AN: 152248Hom.: 5 Cov.: 32 AF XY: 0.00605 AC XY: 450AN XY: 74426
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 18, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at