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NM_001011551.3(C1GALT1C1):c.3G>C (p.Met1Ile) AND Polyagglutinable erythrocyte syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2008
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000032774.5

Allele description [Variation Report for NM_001011551.3(C1GALT1C1):c.3G>C (p.Met1Ile)]

NM_001011551.3(C1GALT1C1):c.3G>C (p.Met1Ile)

Gene:
C1GALT1C1:C1GALT1 specific chaperone 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq24
Genomic location:
Preferred name:
NM_001011551.3(C1GALT1C1):c.3G>C (p.Met1Ile)
Other names:
C1GALT1C1, MET1ILE
HGVS:
  • NC_000023.11:g.120627164C>G
  • NG_016219.1:g.7987G>C
  • NM_001011551.3:c.3G>CMANE SELECT
  • NM_152692.5:c.3G>C
  • NP_001011551.1:p.Met1Ile
  • NP_689905.1:p.Met1Ile
  • NP_689905.1:p.Met1Ile
  • NC_000023.10:g.119761019C>G
  • NM_152692.4:c.3G>C
Protein change:
M1I; MET1ILE
Links:
OMIM: 300611.0005; dbSNP: rs587776928
NCBI 1000 Genomes Browser:
rs587776928
Molecular consequence:
  • NM_001011551.3:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_152692.5:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001011551.3:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152692.5:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Polyagglutinable erythrocyte syndrome (TNPS)
Synonyms:
TN POLYAGGLUTINATION SYNDROME; GALACTOSYLTRANSFERASE DEFICIENCY; TN POLYAGGLUTINATION SYNDROME, SOMATIC
Identifiers:
MONDO: MONDO:0010381; MedGen: C0272137; OMIM: 300622

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056538OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2008) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

New mutations in C1GALT1C1 in individuals with Tn positive phenotype.

Crew VK, Singleton BK, Green C, Parsons SF, Daniels G, Anstee DJ.

Br J Haematol. 2008 Aug;142(4):657-67. doi: 10.1111/j.1365-2141.2008.07215.x. Epub 2008 Jun 5.

PubMed [citation]
PMID:
18537974

Details of each submission

From OMIM, SCV000056538.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a blood sample from a patient with Tn polyagglutination syndrome (300622), Crew et al. (2008) identified a somatic 3G-C transversion in exon 3 of the C1GALT1C1 gene, resulting in a met1-to-ile (M1I) substitution, predicted to remove the translation initiation codon and loss of the first 12 amino acids. Expression of the mutation in Jurkat T lymphocytes resulted in the cells expressing the Tn antigen, indicating loss of C1GALT1C1 function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 3, 2023