NM_000400.4(ERCC2):c.923C>T (p.Pro308Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 2021
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:: RCV002371348.2

Allele description [Variation Report for NM_000400.4(ERCC2):c.923C>T (p.Pro308Leu)]

NM_000400.4(ERCC2):c.923C>T (p.Pro308Leu)

Gene:

ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_000400.4(ERCC2):c.923C>T (p.Pro308Leu)

HGVS:

NC_000019.10:g.45364012G>A
NG_007067.2:g.11576C>T
NM_000400.4:c.923C>TMANE SELECT
NM_001130867.2:c.851C>T
NP_000391.1:p.Pro308Leu
NP_000391.1:p.Pro308Leu
NP_001124339.1:p.Pro284Leu
LRG_461t1:c.923C>T
LRG_461:g.11576C>T
LRG_461p1:p.Pro308Leu
NC_000019.9:g.45867270G>A
NM_000400.3:c.923C>T

Protein change:

P284L

Molecular consequence:

NM_000400.4:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001130867.2:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002687946	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002687946

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 1, 2021)

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, SCV002687946.2

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

Description

The p.P308L variant (also known as c.923C>T), located in coding exon 10 of the ERCC2 gene, results from a C to T substitution at nucleotide position 923. The proline at codon 308 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, 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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