NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) AND Cerebrooculofacioskeletal syndrome 3

Clinical significance:Uncertain significance (Last evaluated: Sep 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001292856.1

Allele description [Variation Report for NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)]

NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)

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.1789G>C (p.Val597Leu)
HGVS:
  • NC_000013.11:g.102862938G>C
  • NG_007146.1:g.22115G>C
  • NM_000123.4:c.1789G>CMANE SELECT
  • NM_001204425.2:c.3151G>C
  • NP_000114.2:p.Val597Leu
  • NP_000114.3:p.Val597Leu
  • NP_001191354.2:p.Val1051Leu
  • LRG_464t1:c.1789G>C
  • LRG_464:g.22115G>C
  • LRG_464p1:p.Val597Leu
  • NC_000013.10:g.103515288G>C
  • NM_000123.3:c.1789G>C
  • P28715:p.Val597Leu
Protein change:
V1051L
Links:
UniProtKB: P28715#VAR_023123; dbSNP: rs4150319
NCBI 1000 Genomes Browser:
rs4150319
Molecular consequence:
  • NM_000123.4:c.1789G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204425.2:c.3151G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebrooculofacioskeletal syndrome 3 (COFS3)
Identifiers:
MONDO: MONDO:0014696; MedGen: C1851443; OMIM: 616570

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001481536Baylor Genetics - CSER-TexasKidsCanSeqcriteria provided, single submitter
Uncertain significance
(Sep 25, 2019)
unknownclinical testing

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

Summary from all submissions

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

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 Baylor Genetics - CSER-TexasKidsCanSeq, SCV001481536.2

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Dec 4, 2021

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