NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 20, 2018
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:: RCV000731973.5

Allele description [Variation Report for NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)]

NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)

Genes:

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

Preferred name:

NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu)

HGVS:

NC_000010.11:g.49524272G>C
NG_009442.1:g.19830C>G
NG_033155.1:g.5010C>G
NM_000124.4:c.1158C>GMANE SELECT
NM_001277058.2:c.1158C>G
NM_001277059.2:c.1158C>G
NM_001346440.2:c.1158C>G
NM_170753.3:c.-247C>G
NP_000115.1:p.Asp386Glu
NP_001263987.1:p.Asp386Glu
NP_001263988.1:p.Asp386Glu
NP_001333369.1:p.Asp386Glu
LRG_465:g.19830C>G
NC_000010.10:g.50732318G>C
NM_000124.3:c.1158C>G

Protein change:

D386E

Links:

dbSNP: rs141391984

NCBI 1000 Genomes Browser:

rs141391984

Molecular consequence:

NM_170753.3:c.-247C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000124.4:c.1158C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001277058.2:c.1158C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001277059.2:c.1158C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346440.2:c.1158C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000859847	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Benign (Mar 20, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000859847

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Benign
(Mar 20, 2018)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000859847.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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