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NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 9, 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:
RCV002256729.9

Allele description [Variation Report for NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)]

NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)

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.3554A>C (p.Lys1185Thr)
HGVS:
  • NC_000013.11:g.102875896A>C
  • NG_007146.1:g.35073A>C
  • NM_000123.4:c.3554A>CMANE SELECT
  • NM_001204425.2:c.4916A>C
  • NP_000114.2:p.Lys1185Thr
  • NP_000114.3:p.Lys1185Thr
  • NP_001191354.2:p.Lys1639Thr
  • LRG_464t1:c.3554A>C
  • LRG_464:g.35073A>C
  • LRG_464p1:p.Lys1185Thr
  • NC_000013.10:g.103528246A>C
  • NM_000123.3:c.3554A>C
  • NM_001204425.1:c.4916A>C
Protein change:
K1185T
Links:
dbSNP: rs201911663
NCBI 1000 Genomes Browser:
rs201911663
Molecular consequence:
  • NM_000123.4:c.3554A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204425.2:c.4916A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002534881Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Nov 9, 2021) 		germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O.

J Cancer Res Clin Oncol. 2018 Dec;144(12):2495-2513. doi: 10.1007/s00432-018-2763-9. Epub 2018 Oct 10.

PubMed [citation]
PMID:
30306255

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL, Johansson PA, Nathan V, Howlie M, Symmons J, Palmer JM, Hayward NK.

PLoS One. 2018;13(4):e0194098. doi: 10.1371/journal.pone.0194098.

PubMed [citation]
PMID:
29641532
PMCID:
PMC5894988

Details of each submission

From Sema4, Sema4, SCV002534881.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025