NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 3, 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:: RCV003987484.1

Allele description [Variation Report for NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)]

NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)

Gene:

UNC80:unc-80 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q34

Genomic location:

Preferred name:

NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)

HGVS:

NC_000002.12:g.209819105G>C
NG_051361.1:g.52181G>C
NM_001371986.1:c.1806G>CMANE SELECT
NM_032504.2:c.1806G>C
NM_182587.4:c.1806G>C
NP_001358915.1:p.Gln602His
NP_115893.1:p.Gln602His
NP_115893.1:p.Gln602His
NP_872393.3:p.Gln602His
NC_000002.11:g.210683829G>C
NM_032504.1:c.1806G>C
NM_032504.2:c.1806G>C

Protein change:

Q602H

Links:

dbSNP: rs200473652

NCBI 1000 Genomes Browser:

rs200473652

Molecular consequence:

NM_001371986.1:c.1806G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_032504.2:c.1806G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_182587.4:c.1806G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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TMEM225 transmembrane protein 225 [Homo sapiens]
TMEM225 transmembrane protein 225 [Homo sapiens]
Gene ID:338661

Gene
Gene Links for GEO Profiles (Select 72518211) (1)
Gene
Gene Links for GEO Profiles (Select 72473123) (1)
Gene
OR10D3 olfactory receptor family 10 subfamily D member 3 [Homo sapiens]
OR10D3 olfactory receptor family 10 subfamily D member 3 [Homo sapiens]
Gene ID:26497

Gene
PPP1R15B protein phosphatase 1 regulatory subunit 15B [Homo sapiens]
PPP1R15B protein phosphatase 1 regulatory subunit 15B [Homo sapiens]
Gene ID:84919

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004804097	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Jan 3, 2024)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 31589614, 29158550 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004804097

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Jan 3, 2024)

germline

clinical testing

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

Citation Link

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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

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM.

PLoS Genet. 2019 Oct;15(10):e1008409. doi: 10.1371/journal.pgen.1008409.

PubMed [citation]

PMID:: 31589614
PMCID:: PMC6797235

Exome Pool-Seq in neurodevelopmental disorders.

Popp B, Ekici AB, Thiel CT, Hoyer J, Wiesener A, Kraus C, Reis A, Zweier C.

Eur J Hum Genet. 2017 Dec;25(12):1364-1376. doi: 10.1038/s41431-017-0022-1. Epub 2017 Nov 20.

PubMed [citation]

PMID:: 29158550
PMCID:: PMC5865117

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004804097.1

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

Description

Variant summary: UNC80 c.1806G>C (p.Gln602His) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0014 in 158532 control chromosomes in the gnomAD database, including 1 homozygotes. c.1806G>C has been reported in the literature in individuals with neurodevelopmental disorders or unaffected individuals. These report(s) do not provide unequivocal conclusions about association of the variant with Infantile Hypotonia With Psychomotor Retardation And Characteristic Facies 2. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 31589614, 29158550). Eight submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Multiple submitters reported the variant with conflicting assessments. Based on the evidence outlined above, the variant was classified as likely benign.

#	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: Oct 13, 2024

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