NM_000400.4(ERCC2):c.1837C>A (p.His613Asn) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 16, 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:: RCV002412744.2

Allele description [Variation Report for NM_000400.4(ERCC2):c.1837C>A (p.His613Asn)]

NM_000400.4(ERCC2):c.1837C>A (p.His613Asn)

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.1837C>A (p.His613Asn)

HGVS:

NC_000019.10:g.45352811G>T
NG_007067.2:g.22777C>A
NM_000400.4:c.1837C>AMANE SELECT
NP_000391.1:p.His613Asn
NP_000391.1:p.His613Asn
LRG_461t1:c.1837C>A
LRG_461:g.22777C>A
LRG_461p1:p.His613Asn
NC_000019.9:g.45856069G>T
NM_000400.3:c.1837C>A

Protein change:

H613N

Molecular consequence:

NM_000400.4:c.1837C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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ribosomal protein S3, partial (mitochondrion) [Croton michauxii var. ellipticus]
ribosomal protein S3, partial (mitochondrion) [Croton michauxii var. ellipticus]
gi|312232765|gb|ADQ53711.1|

Protein
cytochrome oxidase subunit I, partial (mitochondrion) [Leptasterias hexactis]
cytochrome oxidase subunit I, partial (mitochondrion) [Leptasterias hexactis]
gi|18152832|gb|AAF28746.2|AF162095_

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002716342	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002716342

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 16, 2022)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV002716342.2

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

Description

The p.H613N variant (also known as c.1837C>A), located in coding exon 20 of the ERCC2 gene, results from a C to A substitution at nucleotide position 1837. The histidine at codon 613 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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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