NM_138801.3(GALM):c.553-3587_553-3586insCCTTCCTTCCTTCCTTCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCT AND Schizophrenia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 11, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002463532.1

Allele description [Variation Report for NM_138801.3(GALM):c.553-3587_553-3586insCCTTCCTTCCTTCCTTCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCT]

NM_138801.3(GALM):c.553-3587_553-3586insCCTTCCTTCCTTCCTTCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCT

Gene:

GALM:galactose mutarotase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2p22.1

Genomic location:

Preferred name:

NM_138801.3(GALM):c.553-3587_553-3586insCCTTCCTTCCTTCCTTCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCT

HGVS:

NC_000002.12:g.38686226TCCT[4]TCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCT[1]
NM_138801.3:c.553-3587_553-3586insCCTTCCTTCCTTCCTTCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCTMANE SELECT
NC_000002.11:g.38913368TCCT[4]TCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCT[1]

Molecular consequence:

NM_138801.3:c.553-3587_553-3586insCCTTCCTTCCTTCCTTCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Schizophrenia (SCZD)
Identifiers:: MONDO: MONDO:0005090; MeSH: D012559; MedGen: C0036341; OMIM: 181500; Human Phenotype Ontology: HP:0100753

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002757960	Department of Psychiatry, The University of Hong Kong	no assertion criteria provided (ACMG Guidelines, 2015)	Uncertain significance (Nov 11, 2022)	unknown	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002757960

Department of Psychiatry, The University of Hong Kong

no assertion criteria provided

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 11, 2022)

unknown

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	case-control

Citations

PMC

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Details of each submission

From Department of Psychiatry, The University of Hong Kong, SCV002757960.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	not provided

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

Last Updated: Feb 20, 2024

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