NM_000157.4(GBA1):c.1225-3T>C AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 26, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002224929.4

Allele description [Variation Report for NM_000157.4(GBA1):c.1225-3T>C]

NM_000157.4(GBA1):c.1225-3T>C

Genes:

LOC106627981:GBA recombination region [Gene]
GBA1:glucosylceramidase beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_000157.4(GBA1):c.1225-3T>C

HGVS:

NC_000001.11:g.155235847A>G
NG_009783.1:g.13851T>C
NG_042867.1:g.2309A>G
NM_000157.4:c.1225-3T>CMANE SELECT
NM_001005741.2:c.1225-3T>C
NM_001005741.3:c.1225-3T>C
NM_001005742.3:c.1225-3T>C
NM_001171811.2:c.964-3T>C
NM_001171812.2:c.1078-3T>C
NC_000001.10:g.155205638A>G

Links:

dbSNP: rs377143075

NCBI 1000 Genomes Browser:

rs377143075

Molecular consequence:

NM_000157.4:c.1225-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001005741.3:c.1225-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001005742.3:c.1225-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001171811.2:c.964-3T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001171812.2:c.1078-3T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

188bet eggc.vipWhg (0)
BioProject
Treponema pallidum subsp. pallidum str. Nichols
Treponema pallidum subsp. pallidum str. Nichols
Causative agent of syphilis

BioProject
5 eggc.vippKd (1)
BioProject
eggc.vipeIA (0)
BioProject

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002503533	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 25, 2020)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 31996268, 25741868
SCV003808645	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 26, 2021)	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

SCV002503533

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 25, 2020)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV003808645

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 26, 2021)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Orme T, Hernandez D, Ross OA, Kun-Rodrigues C, Darwent L, Shepherd CE, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Morgan K, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, et al.

Acta Neuropathol Commun. 2020 Jan 29;8(1):5. doi: 10.1186/s40478-020-0879-z.

PubMed [citation]

PMID:: 31996268
PMCID:: PMC6990558

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002503533.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	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		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003808645.2

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

#	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: Mar 16, 2024

ClinVar

Relating variation to medicine