NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln) AND Glucose-6-phosphate transport defect

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 17, 2022
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:: RCV001246799.4

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln)]

NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln)

Gene:

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

Variant type:

Indel

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln)

HGVS:

NC_000011.10:g.119026063_119026065delinsTTG
NG_013331.1:g.9841_9843delinsCAA
NM_001164277.2:c.886_888delinsCAAMANE SELECT
NM_001164278.2:c.886_888delinsCAA
NM_001164279.2:c.667_669delinsCAA
NM_001164280.2:c.886_888delinsCAA
NM_001467.6:c.886_888delinsCAA
NP_001157749.1:p.Tyr296Gln
NP_001157749.1:p.Tyr296Gln
NP_001157750.1:p.Tyr296Gln
NP_001157751.1:p.Tyr223Gln
NP_001157752.1:p.Tyr296Gln
NP_001458.1:p.Tyr296Gln
LRG_187t1:c.886_888delinsCAA
LRG_187:g.9841_9843delinsCAA
LRG_187p1:p.Tyr296Gln
NC_000011.9:g.118896773_118896775delinsTTG
NC_000011.9:g.118896773_118896775delinsTTG
NM_001164277.1:c.886_888delinsCAA

Protein change:

Y223Q

Links:

dbSNP: rs1943560243

NCBI 1000 Genomes Browser:

rs1943560243

Molecular consequence:

NM_001164277.2:c.886_888delinsCAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001164278.2:c.886_888delinsCAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001164279.2:c.667_669delinsCAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001164280.2:c.886_888delinsCAA - missense variant - [Sequence Ontology: SO:0001583]
NM_001467.6:c.886_888delinsCAA - 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

Recent activity

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Paspalum almum (1)
Taxonomy
esv2718099 (1)
dbVar
nsv953959 (1)
dbVar
WD repeat and HMG-box DNA-binding protein 1, partial [Cucurbita argyrosperma sub...
WD repeat and HMG-box DNA-binding protein 1, partial [Cucurbita argyrosperma subsp. sororia]
gi|2047915270|gb|KAG6587614.1||gnl| AGKQH|SDJN03_16179

Protein
transcription factor DICHOTOMA-like [Cucumis melo var. makuwa]
transcription factor DICHOTOMA-like [Cucumis melo var. makuwa]
gi|1735216256|gb|KAA0058050.1||gnl| STE|E6C27_scaffold274G003560

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001420184	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 17, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001420184

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 17, 2022)

germline

clinical testing

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

Help

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001420184.3

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

Description

This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 550855). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces tyrosine, which is neutral and polar, with glutamine, which is neutral and polar, at codon 296 of the SLC37A4 protein (p.Tyr296Gln).

#	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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