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NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) AND Xeroderma pigmentosum

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 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:
RCV002257433.2

Allele description [Variation Report for NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)]

NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)

Gene:
ERCC4:ERCC excision repair 4, endonuclease catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.12
Genomic location:
Preferred name:
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)
HGVS:
  • NC_000016.10:g.13935659G>C
  • NG_011442.1:g.20503G>C
  • NM_005236.3:c.1727G>CMANE SELECT
  • NP_005227.1:p.Arg576Thr
  • NP_005227.1:p.Arg576Thr
  • LRG_463t1:c.1727G>C
  • LRG_463:g.20503G>C
  • LRG_463p1:p.Arg576Thr
  • NC_000016.9:g.14029516G>C
  • NM_005236.2:c.1727G>C
  • Q92889:p.Arg576Thr
Protein change:
R576T
Links:
UniProtKB: Q92889#VAR_013397; dbSNP: rs1800068
NCBI 1000 Genomes Browser:
rs1800068
Molecular consequence:
  • NM_005236.3:c.1727G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Xeroderma pigmentosum (XP)
Synonyms:
Xeroderma pigmentosa
Identifiers:
MONDO: MONDO:0019600; MedGen: C0043346

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002537735Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Jan 4, 2022) 		germlinecuration

PubMed (5)
[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

Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

Shindo K, Yu J, Suenaga M, Fesharakizadeh S, Cho C, Macgregor-Das A, Siddiqui A, Witmer PD, Tamura K, Song TJ, Navarro Almario JA, Brant A, Borges M, Ford M, Barkley T, He J, Weiss MJ, Wolfgang CL, Roberts NJ, Hruban RH, Klein AP, Goggins M.

J Clin Oncol. 2017 Oct 20;35(30):3382-3390. doi: 10.1200/JCO.2017.72.3502. Epub 2017 Aug 2.

PubMed [citation]
PMID:
28767289
PMCID:
PMC5648172

Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

Chandrasekharappa SC, Chinn SB, Donovan FX, Chowdhury NI, Kamat A, Adeyemo AA, Thomas JW, Vemulapalli M, Hussey CS, Reid HH, Mullikin JC, Wei Q, Sturgis EM.

Cancer. 2017 Oct 15;123(20):3943-3954. doi: 10.1002/cncr.30802. Epub 2017 Jul 5.

PubMed [citation]
PMID:
28678401
PMCID:
PMC5853120
See all PubMed Citations (5)

Details of each submission

From Sema4, Sema4, SCV002537735.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024