NM_020719.3(PRR12):c.1125TGG[1] (p.Gly378_Gly379del) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 31, 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:: RCV002707768.2

Allele description [Variation Report for NM_020719.3(PRR12):c.1125TGG[1] (p.Gly378_Gly379del)]

NM_020719.3(PRR12):c.1125TGG[1] (p.Gly378_Gly379del)

Gene:

PRR12:proline rich 12 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_020719.3(PRR12):c.1125TGG[1] (p.Gly378_Gly379del)

HGVS:

NC_000019.10:g.49595460TGG[1]
NG_051202.1:g.9284TGG[1]
NM_020719.3:c.1125TGG[1]MANE SELECT
NP_065770.1:p.Gly378_Gly379del
NC_000019.9:g.50098717TGG[1]
NM_020719.1:c.1128_1133delTGGTGG

Molecular consequence:

NM_020719.3:c.1125TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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PREDICTED: Mus musculus follistatin-like 4 (Fstl4), transcript variant X1, misc_...
PREDICTED: Mus musculus follistatin-like 4 (Fstl4), transcript variant X1, misc_RNA
gi|1907082114|ref|XR_388477.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003555571	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 31, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003555571

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 31, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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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

Predicting the functional effect of amino acid substitutions and indels.

Choi Y, Sims GE, Murphy S, Miller JR, Chan AP.

PLoS One. 2012;7(10):e46688. doi: 10.1371/journal.pone.0046688. Epub 2012 Oct 8.

PubMed [citation]

PMID:: 23056405
PMCID:: PMC3466303

Details of each submission

From Ambry Genetics, SCV003555571.2

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

Description

The c.1128_1133delTGGTGG (p.G378_G379del) alteration is located in exon 4 (coding exon 4) of the PRR12 gene. This alteration consists of an in-frame deletion of 6 nucleotides between nucleotide positions c.1128 and c.1133, resulting in the deletion of <NA> residues. The p.G378_G379del alteration is predicted to be neutral with a score of -1.552 by PROVEAN in silico analysis (Choi, 2012). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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