NM_030930.4(UNC93B1):c.1715G>T (p.Gly572Val) AND Herpes simplex encephalitis, susceptibility to, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 15, 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:: RCV001977684.5

Allele description [Variation Report for NM_030930.4(UNC93B1):c.1715G>T (p.Gly572Val)]

NM_030930.4(UNC93B1):c.1715G>T (p.Gly572Val)

Gene:

UNC93B1:unc-93 homolog B1, TLR signaling regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_030930.4(UNC93B1):c.1715G>T (p.Gly572Val)

HGVS:

NC_000011.10:g.67991625C>A
NG_007581.1:g.17499G>T
NM_030930.4:c.1715G>TMANE SELECT
NP_112192.2:p.Gly572Val
LRG_123:g.17499G>T
NC_000011.9:g.67759096C>A

Protein change:

G572V

Links:

dbSNP: rs1458428961

NCBI 1000 Genomes Browser:

rs1458428961

Molecular consequence:

NM_030930.4:c.1715G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Herpes simplex encephalitis, susceptibility to, 1 (IIAE1)
Synonyms:: Herpes simplex encephalitis 1; ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1
Identifiers:: MONDO: MONDO:0024563; MedGen: C2750180; Orphanet: 1930; OMIM: 610551

Recent activity

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Zygnematophyceae sp. E.1 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplast
gi|2316418343|gb|OM241457.1|

Nucleotide
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Trachemys venusta voucher HBS117898 recombination activating protein 1 (RAG-1) gene, partial cds
gi|1959483797|gb|MT962101.1|

Nucleotide
Vijayachelys silvatica voucher FMNH224188 recombination activating protein 1 (RA...
Vijayachelys silvatica voucher FMNH224188 recombination activating protein 1 (RAG-1) gene, partial cds
gi|1959483799|gb|MT962102.1|

Nucleotide
CYTB [Poecile atricapilla]
CYTB [Poecile atricapilla]
Gene ID:20357059

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002263296	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 15, 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

SCV002263296

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 15, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002263296.3

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

Description

This sequence change replaces glycine with valine at codon 572 of the UNC93B1 protein (p.Gly572Val). There is a moderate physicochemical difference between glycine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with UNC93B1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

#	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: Sep 29, 2024

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