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NM_021996.6(GBGT1):c.113A>G (p.Tyr38Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004364945.1

Allele description [Variation Report for NM_021996.6(GBGT1):c.113A>G (p.Tyr38Cys)]

NM_021996.6(GBGT1):c.113A>G (p.Tyr38Cys)

Gene:
GBGT1:globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_021996.6(GBGT1):c.113A>G (p.Tyr38Cys)
HGVS:
  • NC_000009.12:g.133161491T>C
  • NG_033868.1:g.7455A>G
  • NM_001282629.2:c.113A>G
  • NM_001282632.2:c.113A>G
  • NM_001288572.2:c.-66A>G
  • NM_001288573.2:c.-333A>G
  • NM_021996.6:c.113A>GMANE SELECT
  • NP_001269558.1:p.Tyr38Cys
  • NP_001269561.1:p.Tyr38Cys
  • NP_068836.2:p.Tyr38Cys
  • LRG_826t1:c.113A>G
  • LRG_826:g.7455A>G
  • LRG_826p1:p.Tyr38Cys
  • NC_000009.11:g.136036878T>C
  • NM_021996.4:c.113A>G
Protein change:
Y38C
Molecular consequence:
  • NM_001288572.2:c.-66A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001288573.2:c.-333A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282629.2:c.113A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282632.2:c.113A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021996.6:c.113A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004090744Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 14, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004090744.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.113A>G (p.Y38C) alteration is located in exon 3 (coding exon 2) of the GBGT1 gene. This alteration results from a A to G substitution at nucleotide position 113, causing the tyrosine (Y) at amino acid position 38 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024