NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg) AND not specified

Germline classification:: not provided (1 submission)
Last evaluated:: Sep 19, 2013
Review status:: no classification provided

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:: RCV000120840.1

Allele description [Variation Report for NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg)]

NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg)

Genes:

BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q33.1

Genomic location:

Preferred name:

NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg)

HGVS:

NC_000013.11:g.102875380A>G
NG_007146.1:g.34557A>G
NM_000123.4:c.3038A>GMANE SELECT
NM_001204425.2:c.4400A>G
NP_000114.2:p.Gln1013Arg
NP_000114.3:p.Gln1013Arg
NP_001191354.2:p.Gln1467Arg
LRG_464t1:c.3038A>G
LRG_464:g.34557A>G
LRG_464p1:p.Gln1013Arg
NC_000013.10:g.103527730A>G
NM_000123.3:c.3038A>G
NM_001204425.1:c.4400A>G

Protein change:

Q1013R

Links:

dbSNP: rs587778292

NCBI 1000 Genomes Browser:

rs587778292

Molecular consequence:

NM_000123.4:c.3038A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204425.2:c.4400A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000085005	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000085005

ITMI

no classification provided

not provided

germline

reference population

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

Description

Please see associated publication for description of ethnicities: SCV000085005

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

Details of each submission

From ITMI, SCV000085005.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0.0085	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0015	not provided	not provided

Last Updated: Oct 13, 2024

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