NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: May 28, 2019
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:: RCV000059146.3

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)]

NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)

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.899G>A (p.Arg300His)

HGVS:

NC_000011.10:g.119026052C>T
NG_013331.1:g.9854G>A
NM_001164277.2:c.899G>AMANE SELECT
NM_001164278.2:c.899G>A
NM_001164279.2:c.680G>A
NM_001164280.2:c.899G>A
NM_001467.6:c.899G>A
NP_001157749.1:p.Arg300His
NP_001157749.1:p.Arg300His
NP_001157750.1:p.Arg300His
NP_001157751.1:p.Arg227His
NP_001157752.1:p.Arg300His
NP_001458.1:p.Arg300His
LRG_187t1:c.899G>A
LRG_187:g.9854G>A
LRG_187p1:p.Arg300His
NC_000011.9:g.118896762C>T
NM_001164277.1:c.899G>A

Protein change:

R227H

Links:

UniProtKB/Swiss-Prot: VAR_025599; dbSNP: rs193302903

NCBI 1000 Genomes Browser:

rs193302903

Molecular consequence:

NM_001164277.2:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164278.2:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164279.2:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164280.2:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001467.6:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000090675	UniProtKB/Swiss-Prot	no classification provided	not provided	germline	not provided	PubMed (1) [See all records that cite this PMID]
SCV001135036	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000090675

UniProtKB/Swiss-Prot

no classification provided

not provided

germline

not provided

PubMed (1)
[See all records that cite this PMID]

SCV001135036

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

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	1	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Structure and mutation analysis of the glycogen storage disease type 1b gene.

Marcolongo P, Barone V, Priori G, Pirola B, Giglio S, Biasucci G, Zammarchi E, Parenti G, Burchell A, Benedetti A, Sorrentino V.

FEBS Lett. 1998 Oct 2;436(2):247-50. Erratum in: FEBS Lett 1999 Feb 26;445(2-3):451.

PubMed [citation]

PMID:: 9781688

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090675.1

#	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	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Mendelics, SCV001135036.1

#	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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