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NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp) AND Amyotrophic lateral sclerosis type 15

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 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:
RCV001906076.3

Allele description [Variation Report for NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp)]

NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp)

Gene:
UBQLN2:ubiquilin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.21
Genomic location:
Preferred name:
NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp)
HGVS:
  • NC_000023.11:g.56565468G>A
  • NG_016249.1:g.6876G>A
  • NM_013444.4:c.1595G>AMANE SELECT
  • NP_038472.2:p.Gly532Asp
  • LRG_665:g.6876G>A
  • NC_000023.10:g.56591901G>A
Protein change:
G532D
Links:
dbSNP: rs1343347647
NCBI 1000 Genomes Browser:
rs1343347647
Molecular consequence:
  • NM_013444.4:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Amyotrophic lateral sclerosis type 15
Synonyms:
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia; AMYOTROPHIC LATERAL SCLEROSIS 15 WITH FRONTOTEMPORAL DEMENTIA
Identifiers:
MONDO: MONDO:0010459; MedGen: C3275459; Orphanet: 803; OMIM: 300857

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002160108Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 17, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002160108.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces glycine with aspartic acid at codon 532 of the UBQLN2 protein (p.Gly532Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This missense change has been observed in individual(s) with clinical features of UBQLN2-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency).

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

Last Updated: Feb 20, 2024