NM_000155.4(GALT):c.652C>T (p.Leu218=) AND not provided

Germline classification:: Benign; other (4 submissions)
Last evaluated:: Jul 15, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000078233.23

Allele description [Variation Report for NM_000155.4(GALT):c.652C>T (p.Leu218=)]

NM_000155.4(GALT):c.652C>T (p.Leu218=)

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.652C>T (p.Leu218=)

Other names:

L218L

HGVS:

NC_000009.12:g.34648421C>T
NG_009029.2:g.6833C>T
NG_028966.1:g.1237C>T
NM_000155.4:c.652C>TMANE SELECT
NM_001258332.2:c.325C>T
NP_000146.2:p.Leu218=
NP_001245261.1:p.Leu109=
NP_001245261.1:p.Leu109=
NC_000009.11:g.34648418C>T
NM_000155.1:c.652C>T
NM_000155.2:c.652C>T
NM_000155.3:c.652C>T
NM_001258332.1:c.325C>T
NP_000146.2:p.(=)
p.Leu109Leu

Protein change:

LEU218LEU

Links:

OMIM: 606999.0012; dbSNP: rs2070075

NCBI 1000 Genomes Browser:

rs2070075

Molecular consequence:

NM_000155.4:c.652C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001258332.2:c.325C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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BA71V-K145R [African swine fever virus]
BA71V-K145R [African swine fever virus]
gi|1755167349|ref|YP_009702950.1|

Protein
Homo sapiens mRNA, clone: PO2ST9
Homo sapiens mRNA, clone: PO2ST9
gi|464185|dbj|D25274.1|HUMPO2ST9

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000110071	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	other (Feb 5, 2015)	germline	clinical testing	Citation Link,
SCV000281539	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Feb 11, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001988713	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jul 15, 2021)	germline	clinical testing	Citation Link,
SCV005272555	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, not provided
not provided	germline	unknown	90	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110071.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	90	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		90	not provided	not provided	not provided

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000281539.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.035426	not provided	not provided

From GeneDx, SCV001988713.2

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005272555.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

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

Last Updated: Oct 8, 2024

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