NM_001164277.2(SLC37A4):c.985+244T>G AND Glucose-6-phosphate transport defect

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 2017
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:: RCV000670883.1

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.985+244T>G]

NM_001164277.2(SLC37A4):c.985+244T>G

Gene:

SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001164277.2(SLC37A4):c.985+244T>G

HGVS:

NC_000011.10:g.119025723A>C
NG_013331.1:g.10183T>G
NM_001164277.2:c.985+244T>GMANE SELECT
NM_001164278.2:c.1019T>G
NM_001164279.2:c.766+244T>G
NM_001164280.2:c.985+244T>G
NM_001467.6:c.985+244T>G
NP_001157750.1:p.Leu340Arg
LRG_187t1:c.984+244T>G
LRG_187:g.10183T>G
NC_000011.9:g.118896433A>C
NM_001164277.1:c.984+244T>G

Protein change:

L340R

Links:

dbSNP: rs1555190637

NCBI 1000 Genomes Browser:

rs1555190637

Molecular consequence:

NM_001164277.2:c.985+244T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001164279.2:c.766+244T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001164280.2:c.985+244T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001467.6:c.985+244T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001164278.2:c.1019T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glucose-6-phosphate transport defect (GSD1B)
Synonyms:: Glycogen storage disease type 1B; GSD Ib
Identifiers:: MONDO: MONDO:0009288; MedGen: C0268146; Orphanet: 364; Orphanet: 79259; OMIM: 232220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000795796	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 17, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000795796

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Nov 17, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000795796.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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