NM_001099922.3:c.3330A>C

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong

The NM_001099922.3(ALG13):​c.3330A>C​(p.Gln1110His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000911 in 1,097,734 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in ClinVar. Synonymous variant affecting the same amino acid position (i.e. Q1110Q) has been classified as Likely benign.

Frequency

Genomes: not found (cov: 23)
Exomes š‘“: 9.1e-7 ( 0 hom. 0 hem. )

Consequence

ALG13
NM_001099922.3 missense

Scores

2
15

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.718
Variant links:
Genes affected
ALG13 (HGNC:30881): (ALG13 UDP-N-acetylglucosaminyltransferase subunit) The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

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ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.036216646).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
ALG13NM_001099922.3 linkc.3330A>C p.Gln1110His missense_variant Exon 27 of 27 ENST00000394780.8 NP_001093392.1 Q9NP73-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ALG13ENST00000394780.8 linkc.3330A>C p.Gln1110His missense_variant Exon 27 of 27 2 NM_001099922.3 ENSP00000378260.3 Q9NP73-1

Frequencies

GnomAD3 genomes
Cov.:
23
GnomAD3 exomes
AF:
0.00000560
AC:
1
AN:
178644
Hom.:
0
AF XY:
0.00
AC XY:
0
AN XY:
66532
show subpopulations
Gnomad AFR exome
AF:
0.00
Gnomad AMR exome
AF:
0.0000367
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.00
Gnomad OTH exome
AF:
0.00
GnomAD4 exome
AF:
9.11e-7
AC:
1
AN:
1097734
Hom.:
0
Cov.:
30
AF XY:
0.00
AC XY:
0
AN XY:
363238
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.0000285
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
23
Bravo
AF:
0.00000378
ExAC
AF:
0.00000831
AC:
1

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.12
BayesDel_addAF
Benign
-0.39
T
BayesDel_noAF
Benign
-0.68
CADD
Benign
2.6
DANN
Benign
0.85
DEOGEN2
Benign
0.29
T;.;.;.;.
FATHMM_MKL
Benign
0.042
N
LIST_S2
Benign
0.62
T;T;.;T;.
M_CAP
Benign
0.0054
T
MetaRNN
Benign
0.036
T;T;T;T;T
MetaSVM
Benign
-1.1
T
MutationAssessor
Benign
1.6
L;.;.;.;.
PrimateAI
Benign
0.28
T
PROVEAN
Benign
-1.4
N;.;N;.;.
REVEL
Benign
0.028
Sift
Uncertain
0.0060
D;.;D;.;.
Sift4G
Uncertain
0.0080
D;D;D;D;D
Polyphen
0.0010
B;B;B;B;B
Vest4
0.076
MutPred
0.24
Loss of sheet (P = 0.1158);.;.;.;.;
MVP
0.19
MPC
0.16
ClinPred
0.038
T
GERP RS
-6.0
Varity_R
0.13
gMVP
0.46

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs761412613; hg19: chrX-111003143; API