U.S. flag

An official website of the United States government

NM_025092.5(PGGHG):c.2042G>A (p.Arg681His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 11, 2021
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:
RCV004080582.1

Allele description [Variation Report for NM_025092.5(PGGHG):c.2042G>A (p.Arg681His)]

NM_025092.5(PGGHG):c.2042G>A (p.Arg681His)

Gene:
PGGHG:protein-glucosylgalactosylhydroxylysine glucosidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_025092.5(PGGHG):c.2042G>A (p.Arg681His)
HGVS:
  • NC_000011.10:g.294577G>A
  • NM_025092.5:c.2042G>AMANE SELECT
  • NP_079368.3:p.Arg681His
  • NC_000011.9:g.294577G>A
  • NM_025092.4:c.2042G>A
Protein change:
R681H
Molecular consequence:
  • NM_025092.5:c.2042G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003543802Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 11, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003543802.2

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

Description

The c.2042G>A (p.R681H) alteration is located in exon 14 (coding exon 13) of the PGGHG gene. This alteration results from a G to A substitution at nucleotide position 2042, causing the arginine (R) at amino acid position 681 to be replaced by a histidine (H). 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: Oct 26, 2024