NM_019023.5(PRMT7):c.213TGGCAC[3] (p.Gly76_Leu77insThrGly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 8, 2023
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:: RCV003321171.3

Allele description [Variation Report for NM_019023.5(PRMT7):c.213TGGCAC[3] (p.Gly76_Leu77insThrGly)]

NM_019023.5(PRMT7):c.213TGGCAC[3] (p.Gly76_Leu77insThrGly)

Gene:

PRMT7:protein arginine methyltransferase 7 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

16q22.1

Genomic location:

Preferred name:

NM_019023.5(PRMT7):c.213TGGCAC[3] (p.Gly76_Leu77insThrGly)

HGVS:

NC_000016.10:g.68324763TGGCAC[3]
NG_054896.1:g.18790TGGCAC[3]
NG_054896.2:g.18746TGGCAC[3]
NM_001184824.4:c.132+3301TGGCAC[3]
NM_001290018.2:c.213TGGCAC[3]
NM_001351143.3:c.213TGGCAC[3]
NM_001351144.3:c.213TGGCAC[3]
NM_001378018.1:c.213TGGCAC[3]
NM_001378020.1:c.115TGGCAC[3]
NM_001378021.1:c.-25TGGCAC[3]
NM_001378022.1:c.-25TGGCAC[3]
NM_001378023.1:c.-25TGGCAC[3]
NM_019023.5:c.213TGGCAC[3]MANE SELECT
NP_001276947.1:p.Gly76_Leu77insThrGly
NP_001338072.1:p.Gly76_Leu77insThrGly
NP_001338073.1:p.Gly76_Leu77insThrGly
NP_001364947.1:p.Gly76_Leu77insThrGly
NP_001364949.1:p.His42_Gly43insTrpHis
NP_061896.1:p.Gly76_Leu77insThrGly
NC_000016.9:g.68358666TGGCAC[3]
NM_019023.2:c.219_224dup
NR_147056.3:n.377TGGCAC[3]
NR_147057.3:n.512TGGCAC[3]
NR_147058.3:n.512TGGCAC[3]
NR_165365.1:n.512TGGCAC[3]
NR_165366.1:n.377TGGCAC[3]
NR_165367.1:n.377TGGCAC[3]
NR_165368.1:n.475TGGCAC[3]
NR_165369.1:n.340TGGCAC[3]
NR_165370.1:n.340TGGCAC[3]
NR_165371.1:n.512TGGCAC[3]
NR_165372.1:n.512TGGCAC[3]
NR_165373.1:n.475TGGCAC[3]

Molecular consequence:

NM_001378021.1:c.-25TGGCAC[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001378022.1:c.-25TGGCAC[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001378023.1:c.-25TGGCAC[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001290018.2:c.213TGGCAC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001351143.3:c.213TGGCAC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001351144.3:c.213TGGCAC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001378018.1:c.213TGGCAC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001378020.1:c.115TGGCAC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_019023.5:c.213TGGCAC[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001184824.4:c.132+3301TGGCAC[3] - intron variant - [Sequence Ontology: SO:0001627]
NR_147056.3:n.377TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147057.3:n.512TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147058.3:n.512TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165365.1:n.512TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165366.1:n.377TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165367.1:n.377TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165368.1:n.475TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165369.1:n.340TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165370.1:n.340TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165371.1:n.512TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165372.1:n.512TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_165373.1:n.475TGGCAC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Homo sapiens myogenin (myogenic factor 4) mRNA, complete cds
Homo sapiens myogenin (myogenic factor 4) mRNA, complete cds
gi|30583304|gnl|clontech|GH00825X1. BT007233.1|

Nucleotide
Leukocytes, Mononuclear
Leukocytes, Mononuclear
Mature LYMPHOCYTES and MONOCYTES transported by the blood to the body's extravascular space. They are morphologically distinguishable from mature granulocytic leukocytes by th...<br/>Year introduced: 1988

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004025352	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 8, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004025352

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 8, 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV004025352.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame insertion of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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