NM_001983.4(ERCC1):c.*183C>T AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Mar 10, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001569747.4

Allele description [Variation Report for NM_001983.4(ERCC1):c.*183C>T]

NM_001983.4(ERCC1):c.*183C>T

Genes:
ERCC1:ERCC excision repair 1, endonuclease non-catalytic subunit [Gene - OMIM - HGNC]
POLR1G:RNA polymerase I subunit G [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_001983.4(ERCC1):c.*183C>T
HGVS:
  • NC_000019.10:g.45409492G>A
  • NG_015839.2:g.74337C>T
  • NM_001166049.2:c.*183C>T
  • NM_001297590.3:c.1530G>A
  • NM_001369412.1:c.*183C>T
  • NM_001369413.1:c.*183C>T
  • NM_001369414.1:c.*183C>T
  • NM_001369415.1:c.*183C>T
  • NM_001369416.1:c.*183C>T
  • NM_001369417.1:c.*183C>T
  • NM_001369418.1:c.*183C>T
  • NM_001369419.1:c.*183C>T
  • NM_001983.4:c.*183C>TMANE SELECT
  • NM_012099.3:c.1524G>AMANE SELECT
  • NP_001284519.1:p.Gln510=
  • NP_036231.1:p.Gln508=
  • LRG_305t1:c.*183C>T
  • LRG_305:g.74337C>T
  • NC_000019.9:g.45912750G>A
Links:
dbSNP: rs118178942
NCBI 1000 Genomes Browser:
rs118178942
Molecular consequence:
  • NM_001166049.2:c.*183C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369412.1:c.*183C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369413.1:c.*183C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369414.1:c.*183C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369415.1:c.*183C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369416.1:c.*183C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369417.1:c.*183C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369418.1:c.*183C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001369419.1:c.*183C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001983.4:c.*183C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001297590.3:c.1530G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012099.3:c.1524G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001793884GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Mar 10, 2019) 		germlineclinical testing

Citation Link,

SCV005209662Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benigngermlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, not provided

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV001793884.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005209662.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024