NM_002633.3(PGM1):c.247-5696A>T AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 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:: RCV001581119.4

Allele description [Variation Report for NM_002633.3(PGM1):c.247-5696A>T]

NM_002633.3(PGM1):c.247-5696A>T

Gene:

PGM1:phosphoglucomutase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

Preferred name:

NM_002633.3(PGM1):c.247-5696A>T

HGVS:

NC_000001.11:g.63623729A>T
NG_016966.1:g.35454A>T
NM_001172818.1:c.269A>T
NM_001172819.2:c.-345-5696A>T
NM_002633.3:c.247-5696A>TMANE SELECT
NP_001166289.1:p.Glu90Val
NC_000001.10:g.64089400A>T
NM_002633.3:c.247-5696A>T

Protein change:

E90V

Links:

dbSNP: rs200881174

NCBI 1000 Genomes Browser:

rs200881174

Molecular consequence:

NM_001172819.2:c.-345-5696A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_002633.3:c.247-5696A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001172818.1:c.269A>T - 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
SCV001819299	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 26, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001819299

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 26, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001819299.1

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

Description

In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; Observed along with a variant in the MPI gene in an individual with fetal alcohol syndrome (FAS), attention deficit hyperactivity disorder, learning disorder and adenoidhypertrophy in a study assessing possible genetic predisposition to FAS (de la Morena-Barrio ME et al., 2018); This variant is associated with the following publications: (PMID: 28820871)

#	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: Sep 29, 2024

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