NM_003675.4(PRPF18):c.979A>G (p.Lys327Glu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 6, 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:: RCV004159729.1

Allele description [Variation Report for NM_003675.4(PRPF18):c.979A>G (p.Lys327Glu)]

NM_003675.4(PRPF18):c.979A>G (p.Lys327Glu)

Gene:

PRPF18:pre-mRNA processing factor 18 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

Preferred name:

NM_003675.4(PRPF18):c.979A>G (p.Lys327Glu)

HGVS:

NC_000010.11:g.13630290A>G
NM_001395875.1:c.1006A>G
NM_001395876.1:c.961A>G
NM_001395877.1:c.*46A>G
NM_001395878.1:c.934A>G
NM_001395879.1:c.907A>G
NM_001395880.1:c.865A>G
NM_001395881.1:c.838A>G
NM_001395882.1:c.820A>G
NM_001395883.1:c.820A>G
NM_001395884.1:c.766A>G
NM_001395885.1:c.751A>G
NM_001395886.1:c.751A>G
NM_001395887.1:c.721A>G
NM_003675.4:c.979A>GMANE SELECT
NP_001382804.1:p.Lys336Glu
NP_001382805.1:p.Lys321Glu
NP_001382807.1:p.Lys312Glu
NP_001382808.1:p.Lys303Glu
NP_001382809.1:p.Lys289Glu
NP_001382810.1:p.Lys280Glu
NP_001382811.1:p.Lys274Glu
NP_001382812.1:p.Lys274Glu
NP_001382813.1:p.Lys256Glu
NP_001382814.1:p.Lys251Glu
NP_001382815.1:p.Lys251Glu
NP_001382816.1:p.Lys241Glu
NP_003666.1:p.Lys327Glu
NC_000010.10:g.13672290A>G
NM_003675.3:c.979A>G
NR_172905.1:n.1101A>G
NR_172906.1:n.1101A>G

Protein change:

K241E

Molecular consequence:

NM_001395877.1:c.*46A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001395875.1:c.1006A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395876.1:c.961A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395878.1:c.934A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395879.1:c.907A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395880.1:c.865A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395881.1:c.838A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395882.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395883.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395884.1:c.766A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395885.1:c.751A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395886.1:c.751A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001395887.1:c.721A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003675.4:c.979A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_172905.1:n.1101A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_172906.1:n.1101A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003653392	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003653392

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 6, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003653392.2

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

Description

The c.979A>G (p.K327E) alteration is located in exon 10 (coding exon 10) of the PRPF18 gene. This alteration results from a A to G substitution at nucleotide position 979, causing the lysine (K) at amino acid position 327 to be replaced by a glutamic acid (E). 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: Nov 24, 2024

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