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NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
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:
RCV001375858.1

Allele description [Variation Report for NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)]

NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)

Gene:
PCSK7:proprotein convertase subtilisin/kexin type 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)
HGVS:
  • NC_000011.10:g.117208910G>C
  • NM_004716.4:c.1678C>GMANE SELECT
  • NP_004707.2:p.Arg560Gly
  • NC_000011.9:g.117079626G>C
  • NM_004716.2:c.1678C>G
Protein change:
R560G
Links:
dbSNP: rs202038275
NCBI 1000 Genomes Browser:
rs202038275
Molecular consequence:
  • NM_004716.4:c.1678C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pericallosal lipoma
Synonyms:
Corpus callosum lipoma
Identifiers:
MONDO: MONDO:0003845; MedGen: C1333160; Human Phenotype Ontology: HP:0006931
Name:
Skin tags
Identifiers:
MONDO: MONDO:0004026; MedGen: C0037293; Human Phenotype Ontology: HP:0010609
Name:
Midline facial cleft
Identifiers:
MedGen: C4022007; Human Phenotype Ontology: HP:0100629

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001572785Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significancede novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001572785.1

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

Last Updated: Jan 26, 2024