NM_005236.2(ERCC4):c.1212A>G (p.Pro404=) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Sep 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000469080.2

Allele description [Variation Report for NM_005236.2(ERCC4):c.1212A>G (p.Pro404=)]

NM_005236.2(ERCC4):c.1212A>G (p.Pro404=)

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_005236.2(ERCC4):c.1212A>G (p.Pro404=)
HGVS:
  • NC_000016.10:g.13934301A>G
  • NG_011442.1:g.19145A>G
  • NM_005236.2:c.1212A>G
  • NP_005227.1:p.Pro404=
  • LRG_463t1:c.1212A>G
  • LRG_463:g.19145A>G
  • LRG_463p1:p.Pro404=
  • NC_000016.9:g.14028158A>G
Links:
dbSNP: rs752193295
NCBI 1000 Genomes Browser:
rs752193295
Molecular consequence:
  • NM_005236.2:c.1212A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000548329Invitaecriteria provided, single submitter
Uncertain significance
(Sep 13, 2018)
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, SCV000548329.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change affects codon 404 of the ERCC4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ERCC4 protein. This variant is present in population databases (rs752193295, ExAC 0.009%) but has not been reported in the literature in individuals with a ERCC4-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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