rs45557031
Positions:
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001011551.3(C1GALT1C1):c.428C>T(p.Ala143Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0239 in 1,209,784 control chromosomes in the GnomAD database, including 365 homozygotes. There are 9,445 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.020 ( 23 hom., 757 hem., cov: 23)
Exomes 𝑓: 0.024 ( 342 hom. 8688 hem. )
Consequence
C1GALT1C1
NM_001011551.3 missense
NM_001011551.3 missense
Scores
1
8
6
Clinical Significance
Conservation
PhyloP100: 7.67
Genes affected
C1GALT1C1 (HGNC:24338): (C1GALT1 specific chaperone 1) This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.009571731).
BP6
?
Variant X-120626739-G-A is Benign according to our data. Variant chrX-120626739-G-A is described in ClinVar as [Benign]. Clinvar id is 460285.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0201 (2255/111944) while in subpopulation NFE AF= 0.0261 (1390/53196). AF 95% confidence interval is 0.025. There are 23 homozygotes in gnomad4. There are 757 alleles in male gnomad4 subpopulation. Median coverage is 23. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd4 at 23 XL gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C1GALT1C1 | NM_001011551.3 | c.428C>T | p.Ala143Val | missense_variant | 2/2 | ENST00000304661.6 | |
C1GALT1C1 | NM_152692.5 | c.428C>T | p.Ala143Val | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C1GALT1C1 | ENST00000304661.6 | c.428C>T | p.Ala143Val | missense_variant | 2/2 | 1 | NM_001011551.3 | P1 | |
C1GALT1C1 | ENST00000371313.2 | c.428C>T | p.Ala143Val | missense_variant | 3/3 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0202 AC: 2256AN: 111891Hom.: 23 Cov.: 23 AF XY: 0.0223 AC XY: 758AN XY: 34055
GnomAD3 genomes
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GnomAD3 exomes AF: 0.0223 AC: 4084AN: 182776Hom.: 80 AF XY: 0.0227 AC XY: 1532AN XY: 67364
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GnomAD4 exome AF: 0.0243 AC: 26698AN: 1097840Hom.: 342 Cov.: 31 AF XY: 0.0239 AC XY: 8688AN XY: 363234
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GnomAD4 genome ? AF: 0.0201 AC: 2255AN: 111944Hom.: 23 Cov.: 23 AF XY: 0.0222 AC XY: 757AN XY: 34118
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81
ESP6500AA
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Polyagglutinable erythrocyte syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 24, 2024 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Uncertain
DEOGEN2
Uncertain
D;D
FATHMM_MKL
Pathogenic
D
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationAssessor
Uncertain
M;M
MutationTaster
Benign
P;P
PrimateAI
Uncertain
T
PROVEAN
Uncertain
D;D
REVEL
Uncertain
Sift
Uncertain
D;D
Sift4G
Uncertain
D;D
Polyphen
B;B
Vest4
MPC
ClinPred
T
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
Varity_R
gMVP
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at