NM_018671.5(UNC45A):c.62_63insAGCAGCTGGGAAGTAGCA (p.Val21_Glu22insAlaAlaGlyLysTer) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 19, 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:: RCV001987156.3

Allele description [Variation Report for NM_018671.5(UNC45A):c.62_63insAGCAGCTGGGAAGTAGCA (p.Val21_Glu22insAlaAlaGlyLysTer)]

NM_018671.5(UNC45A):c.62_63insAGCAGCTGGGAAGTAGCA (p.Val21_Glu22insAlaAlaGlyLysTer)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_018671.5(UNC45A):c.62_63insAGCAGCTGGGAAGTAGCA (p.Val21_Glu22insAlaAlaGlyLysTer)

HGVS:

NC_000015.10:g.90935554_90935555insAGCAGCTGGGAAGTAGCA
NG_061633.1:g.10375_10376insAGCAGCTGGGAAGTAGCA
NM_001039675.2:c.17_18insAGCAGCTGGGAAGTAGCA
NM_001323619.1:c.62_63insAGCAGCTGGGAAGTAGCA
NM_001323620.2:c.-522_-521insAGCAGCTGGGAAGTAGCA
NM_001323621.2:c.17_18insAGCAGCTGGGAAGTAGCA
NM_018671.5:c.62_63insAGCAGCTGGGAAGTAGCAMANE SELECT
NP_001034764.1:p.Val6_Glu7insAlaAlaGlyLysTer
NP_001310548.1:p.Val21_Glu22insAlaAlaGlyLysTer
NP_001310550.1:p.Val6_Glu7insAlaAlaGlyLysTer
NP_061141.2:p.Val21_Glu22insAlaAlaGlyLysTer
NC_000015.9:g.91478784_91478785insAGCAGCTGGGAAGTAGCA

Links:

dbSNP: rs2151353430

NCBI 1000 Genomes Browser:

rs2151353430

Molecular consequence:

NM_001323620.2:c.-522_-521insAGCAGCTGGGAAGTAGCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001039675.2:c.17_18insAGCAGCTGGGAAGTAGCA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001323619.1:c.62_63insAGCAGCTGGGAAGTAGCA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001323621.2:c.17_18insAGCAGCTGGGAAGTAGCA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_018671.5:c.62_63insAGCAGCTGGGAAGTAGCA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001039675.2:c.17_18insAGCAGCTGGGAAGTAGCA - nonsense - [Sequence Ontology: SO:0001587]
NM_001323619.1:c.62_63insAGCAGCTGGGAAGTAGCA - nonsense - [Sequence Ontology: SO:0001587]
NM_001323621.2:c.17_18insAGCAGCTGGGAAGTAGCA - nonsense - [Sequence Ontology: SO:0001587]
NM_018671.5:c.62_63insAGCAGCTGGGAAGTAGCA - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002216011	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 19, 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

SCV002216011

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 19, 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 Invitae, SCV002216011.3

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

Description

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. This variant has not been reported in the literature in individuals with UNC45A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val21_Glu22insAlaAlaGlyLys*) in the UNC45A gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in UNC45A cause disease.

#	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: Feb 28, 2024

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