NM_000155.4(GALT):c.762G>A (p.Leu254=) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 18, 2020
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:: RCV001201221.2

Allele description [Variation Report for NM_000155.4(GALT):c.762G>A (p.Leu254=)]

NM_000155.4(GALT):c.762G>A (p.Leu254=)

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.762G>A (p.Leu254=)

HGVS:

NC_000009.12:g.34648836G>A
NG_009029.2:g.7248G>A
NG_028966.1:g.1652G>A
NM_000155.4:c.762G>AMANE SELECT
NM_001258332.2:c.435G>A
NP_000146.2:p.Leu254=
NP_001245261.1:p.Leu145=
NC_000009.11:g.34648833G>A
NM_000155.3:c.762G>A

Links:

dbSNP: rs748639317

NCBI 1000 Genomes Browser:

rs748639317

Molecular consequence:

NM_000155.4:c.762G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001258332.2:c.435G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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nucleolar GTP-binding protein 2 isoform 1 [Homo sapiens]
nucleolar GTP-binding protein 2 isoform 1 [Homo sapiens]
gi|7019419|ref|NP_037417.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001372312	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Jun 18, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001372312

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Jun 18, 2020)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001372312.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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