NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Nov 25, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000864380.3

Allele description [Variation Report for NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)]

NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)

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.2647G>A (p.Glu883Lys)
HGVS:
  • NC_000016.10:g.13948243G>A
  • NG_011442.1:g.33087G>A
  • NM_005236.3:c.2647G>AMANE SELECT
  • NP_005227.1:p.Glu883Lys
  • LRG_463t1:c.2647G>A
  • LRG_463:g.33087G>A
  • NC_000016.9:g.14042100G>A
  • NM_005236.2:c.2647G>A
Protein change:
E883K
Links:
dbSNP: rs201652412
NCBI 1000 Genomes Browser:
rs201652412
Molecular consequence:
  • NM_005236.3:c.2647G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Xeroderma pigmentosum, group F (XPF)
Synonyms:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XERODERMA PIGMENTOSUM VI; XP, GROUP F; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010215; MedGen: C0268140; OMIM: 278760
Name:
Cockayne syndrome
Synonyms:
Cockayne's syndrome; Dwarfism-retinal atrophy-deafness syndrome; Progeria-like syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0016006; MedGen: C0009207
Name:
Fanconi anemia, complementation group Q (FANCQ)
Identifiers:
MONDO: MONDO:0014108; MedGen: C3808988; Orphanet: 84; OMIM: 615272

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001005171Invitaecriteria provided, single submitter
Likely benign
(Nov 25, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001005171.3

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

Last Updated: May 16, 2021

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