NM_018671.5(UNC45A):c.254T>C (p.Ile85Thr) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 13, 2022
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:: RCV001880869.2

Allele description

NM_018671.5(UNC45A):c.254T>C (p.Ile85Thr)

Gene:

UNC45A:unc-45 myosin chaperone A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_018671.5(UNC45A):c.254T>C (p.Ile85Thr)

HGVS:

NC_000015.10:g.90936288T>C
NG_061633.1:g.11109T>C
NM_001039675.2:c.209T>C
NM_001323619.1:c.254T>C
NM_001323620.2:c.-182T>C
NM_001323621.2:c.209T>C
NM_018671.5:c.254T>CMANE SELECT
NP_001034764.1:p.Ile70Thr
NP_001310548.1:p.Ile85Thr
NP_001310550.1:p.Ile70Thr
NP_061141.2:p.Ile85Thr
NC_000015.9:g.91479518T>C

Protein change:

I70T

Links:

dbSNP: rs2036014748

NCBI 1000 Genomes Browser:

rs2036014748

Molecular consequence:

NM_001323620.2:c.-182T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001039675.2:c.209T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001323619.1:c.254T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001323621.2:c.209T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_018671.5:c.254T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002142778	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 13, 2022)	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

SCV002142778

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 13, 2022)

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 Invitae, SCV002142778.2

#	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 isoleucine with threonine at codon 85 of the UNC45A protein (p.Ile85Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with UNC45A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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: Dec 24, 2023

ClinVar

Relating variation to medicine