16-5071868-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS1
The NM_019109.5(ALG1):c.19G>A(p.Val7Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000228 in 1,605,100 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V7G) has been classified as Uncertain significance.
Frequency
Consequence
NM_019109.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALG1 | NM_019109.5 | c.19G>A | p.Val7Ile | missense_variant | 1/13 | ENST00000262374.10 | |
ALG1 | XM_017023457.3 | c.19G>A | p.Val7Ile | missense_variant | 1/12 | ||
ALG1 | XR_007064892.1 | n.26G>A | non_coding_transcript_exon_variant | 1/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALG1 | ENST00000262374.10 | c.19G>A | p.Val7Ile | missense_variant | 1/13 | 1 | NM_019109.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000985 AC: 15AN: 152250Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000557 AC: 129AN: 231674Hom.: 1 AF XY: 0.000724 AC XY: 92AN XY: 127112
GnomAD4 exome AF: 0.000242 AC: 351AN: 1452734Hom.: 3 Cov.: 31 AF XY: 0.000349 AC XY: 252AN XY: 722760
GnomAD4 genome ? AF: 0.0000984 AC: 15AN: 152366Hom.: 1 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74516
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jul 17, 2014 | - - |
ALG1-congenital disorder of glycosylation Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 18, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at