NM_020702.5(MYORG):c.1634G>A (p.Gly545Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 17, 2020
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:: RCV001299902.7

Allele description [Variation Report for NM_020702.5(MYORG):c.1634G>A (p.Gly545Asp)]

NM_020702.5(MYORG):c.1634G>A (p.Gly545Asp)

Gene:

MYORG:myogenesis regulating glycosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NM_020702.5(MYORG):c.1634G>A (p.Gly545Asp)

HGVS:

NC_000009.12:g.34371310C>T
NM_020702.5:c.1634G>AMANE SELECT
NP_065753.2:p.Gly545Asp
NC_000009.11:g.34371308C>T

Protein change:

G545D

Links:

dbSNP: rs199770930

NCBI 1000 Genomes Browser:

rs199770930

Molecular consequence:

NM_020702.5:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Monitoring fetal growth
Monitoring fetal growth
Homo sapiens Prader-Willi region non-protein coding RNA 2 (PWRN2), long non-codi...
Homo sapiens Prader-Willi region non-protein coding RNA 2 (PWRN2), long non-coding RNA
gi|1315370284|ref|NR_152824.1|

Nucleotide
cytochrome oxidase subunit II, partial (mitochondrion) [Neduba carinata]
cytochrome oxidase subunit II, partial (mitochondrion) [Neduba carinata]
gi|2018441941|gb|QTG58610.1|

Protein

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
SCV001489018	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 17, 2020)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32211515, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001489018

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 17, 2020)

germline

clinical testing

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

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

Chelban V, Carecchio M, Rea G, Bowirrat A, Kirmani S, Magistrelli L, Efthymiou S, Schottlaender L, Vandrovcova J, Salpietro V, Salsano E, Pareyson D, Chiapparini L, Jan F, Ibrahim S, Khan F, Qarnain Z, Groppa S, Bajaj N, Balint B, Bhatia KP, Lees A, et al.

Neurol Genet. 2020 Apr;6(2):e399. doi: 10.1212/NXG.0000000000000399.

PubMed [citation]

PMID:: 32211515
PMCID:: PMC7073457

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, SCV001489018.4

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

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. 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). This variant has been observed in individual(s) with clinical features of primary basal ganglia calcification (PMID: 32211515, Invitae). This variant is present in population databases (rs199770930, ExAC 0.01%). This sequence change replaces glycine with aspartic acid at codon 545 of the KIAA1161 protein (p.Gly545Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

#	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

ClinVar

Relating variation to medicine