chr10-95633530-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_002860.4(ALDH18A1):c.678C>T(p.Val226=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000445 in 1,461,884 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. V226V) has been classified as Likely benign.
Frequency
Consequence
NM_002860.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALDH18A1 | NM_002860.4 | c.678C>T | p.Val226= | synonymous_variant | 6/18 | ENST00000371224.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH18A1 | ENST00000371224.7 | c.678C>T | p.Val226= | synonymous_variant | 6/18 | 1 | NM_002860.4 | P3 | |
ALDH18A1 | ENST00000371221.3 | c.678C>T | p.Val226= | synonymous_variant | 6/18 | 1 | A1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251350Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135840
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1461884Hom.: 0 Cov.: 32 AF XY: 0.0000578 AC XY: 42AN XY: 727246
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
de Barsy syndrome;C1832669:Autosomal dominant spastic paraplegia type 9;C4225268:Cutis laxa, autosomal dominant 3 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 16, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at