rs1556517111

Positions:

• chrX-111736835-C-A
• chrX-111736835-C-T

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_001099922.3(ALG13):​c.2651C>A​(p.Ala884Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 23)
• Consequence: ALG13 NM_001099922.3 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.07

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]

ALG13 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.24790421).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ALG13	NM_001099922.3	c.2651C>A	p.Ala884Asp	missense_variant	23/27	ENST00000394780.8	NP_001093392.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ALG13	ENST00000394780.8	c.2651C>A	p.Ala884Asp	missense_variant	23/27	2	NM_001099922.3	ENSP00000378260.3

Frequencies

GnomAD3 genomes Cov.: 23

GnomAD4 exome Cov.: 29

GnomAD4 genome Cov.: 23

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.20
BayesDel_addAF	Uncertain	0.048	T
BayesDel_noAF	Benign	-0.17
CADD	Benign	17
DANN	Uncertain	0.99
DEOGEN2	Uncertain	0.70	D;.;.;.;.
FATHMM_MKL	Uncertain	0.82	D
LIST_S2	Benign	0.60	T;T;.;T;.
M_CAP	Uncertain	0.093	D
MetaRNN	Benign	0.25	T;T;T;T;T
MetaSVM	Benign	-0.36	T
MutationAssessor	Benign	2.0	M;.;.;.;.
PrimateAI	Benign	0.37	T
PROVEAN	Uncertain	-3.1	D;.;D;.;.
REVEL	Benign	0.23
Sift	Uncertain	0.0040	D;.;D;.;.
Sift4G	Uncertain	0.050	T;D;D;D;D
Polyphen		0.88	P;P;P;P;P
Vest4		0.34
MutPred		0.24		Loss of helix (P = 0.079);.;.;.;.;
MVP		0.75
MPC		0.53
ClinPred		0.94	D
GERP RS		4.4
Varity_R		0.60
gMVP		0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1556517111; hg19: chrX-110980063;