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NM_000158.4(GBE1):c.1856C>T (p.Ala619Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 2024
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:
RCV004395206.1

Allele description [Variation Report for NM_000158.4(GBE1):c.1856C>T (p.Ala619Val)]

NM_000158.4(GBE1):c.1856C>T (p.Ala619Val)

Gene:
GBE1:1,4-alpha-glucan branching enzyme 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p12.2
Genomic location:
Preferred name:
NM_000158.4(GBE1):c.1856C>T (p.Ala619Val)
HGVS:
  • NC_000003.12:g.81535273G>A
  • NG_011810.1:g.231528C>T
  • NG_011810.2:g.231372C>T
  • NM_000158.4:c.1856C>TMANE SELECT
  • NP_000149.4:p.Ala619Val
  • NC_000003.11:g.81584424G>A
  • NM_000158.3:c.1856C>T
Protein change:
A619V
Molecular consequence:
  • NM_000158.4:c.1856C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004874557Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 5, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004874557.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1856C>T (p.A619V) alteration is located in exon 14 (coding exon 14) of the GBE1 gene. This alteration results from a C to T substitution at nucleotide position 1856, causing the alanine (A) at amino acid position 619 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024