rs41310410
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_003748.4(ALDH4A1):c.1086G>T(p.Pro362=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000693 in 1,442,582 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P362P) has been classified as Likely benign.
Frequency
Consequence
NM_003748.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALDH4A1 | NM_003748.4 | c.1086G>T | p.Pro362= | synonymous_variant | 10/15 | ENST00000375341.8 | |
ALDH4A1 | NM_170726.3 | c.1086G>T | p.Pro362= | synonymous_variant | 10/16 | ||
ALDH4A1 | NM_001319218.2 | c.1086G>T | p.Pro362= | synonymous_variant | 10/14 | ||
ALDH4A1 | NM_001161504.2 | c.906G>T | p.Pro302= | synonymous_variant | 10/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDH4A1 | ENST00000375341.8 | c.1086G>T | p.Pro362= | synonymous_variant | 10/15 | 1 | NM_003748.4 | P1 | |
ALDH4A1 | ENST00000290597.9 | c.1086G>T | p.Pro362= | synonymous_variant | 10/16 | 1 | P1 | ||
ALDH4A1 | ENST00000538839.5 | c.1086G>T | p.Pro362= | synonymous_variant | 10/14 | 1 | |||
ALDH4A1 | ENST00000538309.5 | c.906G>T | p.Pro302= | synonymous_variant | 10/15 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.93e-7 AC: 1AN: 1442582Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 715810
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at