NM_004998.4(MYO1E):c.1946G>A (p.Gly649Glu) AND Focal segmental glomerulosclerosis 6

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 21, 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:: RCV003984931.1

Allele description [Variation Report for NM_004998.4(MYO1E):c.1946G>A (p.Gly649Glu)]

NM_004998.4(MYO1E):c.1946G>A (p.Gly649Glu)

Gene:

MYO1E:myosin IE [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.2

Genomic location:

Preferred name:

NM_004998.4(MYO1E):c.1946G>A (p.Gly649Glu)

HGVS:

NC_000015.10:g.59178496C>T
NG_031999.1:g.199377G>A
NM_004998.4:c.1946G>AMANE SELECT
NP_004989.2:p.Gly649Glu
NP_004989.2:p.Gly649Glu
NC_000015.9:g.59470695C>T
NM_004998.3:c.1946G>A

Protein change:

G649E

Molecular consequence:

NM_004998.4:c.1946G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Focal segmental glomerulosclerosis 6 (FSGS6)
Identifiers:: MONDO: MONDO:0013589; MedGen: C3279905; Orphanet: 656; OMIM: 614131

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
SCV004801046	Medizinische Genetik Mainz, Limbach Genetics GmbH	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Uncertain significance (Jan 21, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004801046

Medizinische Genetik Mainz, Limbach Genetics GmbH

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Uncertain significance
(Jan 21, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Medizinische Genetik Mainz, Limbach Genetics GmbH, SCV004801046.1

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

Description

PM2_SUP, PP3, PP4 (ACMG Version 3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 23, 2024

ClinVar

Relating variation to medicine