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NM_000155.4(GALT):c.268G>C (p.Asp90His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 19, 2016
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:
RCV000586397.2

Allele description [Variation Report for NM_000155.4(GALT):c.268G>C (p.Asp90His)]

NM_000155.4(GALT):c.268G>C (p.Asp90His)

Gene:
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.4(GALT):c.268G>C (p.Asp90His)
HGVS:
  • NC_000009.12:g.34647507G>C
  • NG_009029.2:g.5919G>C
  • NG_028966.1:g.323G>C
  • NM_000155.4:c.268G>CMANE SELECT
  • NM_001258332.2:c.50+249G>C
  • NP_000146.2:p.Asp90His
  • NC_000009.11:g.34647504G>C
  • NM_000155.2:c.268G>C
Protein change:
D90H
Links:
dbSNP: rs201330799
NCBI 1000 Genomes Browser:
rs201330799
Molecular consequence:
  • NM_001258332.2:c.50+249G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000155.4:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000695686Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 19, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695686.1

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

Description

Variant summary: The GALT c.268G>C variant affects a non-conserved nucleotide, resulting in amino acid change from Asp to His. 2/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant is found in 2/121412 control chromosomes at a frequency of 0.0000165, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0028868). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Sep 16, 2024