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NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND multiple conditions

Germline classification:
Pathogenic (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:
RCV000735338.7

Allele description

NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)

Gene:
PACS1:phosphofurin acidic cluster sorting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
HGVS:
  • NC_000011.10:g.66211206C>T
  • NG_033900.1:g.145854C>T
  • NM_018026.4:c.607C>TMANE SELECT
  • NP_060496.2:p.Arg203Trp
  • NC_000011.9:g.65978677C>T
  • NM_018026.2:c.607C>T
  • NM_018026.3:c.607C>T
  • Q6VY07:p.Arg203Trp
Protein change:
R203W; ARG203TRP
Links:
UniProtKB: Q6VY07#VAR_069534; OMIM: 607492.0001; dbSNP: rs398123009
NCBI 1000 Genomes Browser:
rs398123009
Molecular consequence:
  • NM_018026.4:c.607C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
unknown functional consequence

Condition(s)

Name:
Hypotelorism
Identifiers:
MedGen: C0424711; Human Phenotype Ontology: HP:0000601
Name:
Horseshoe kidney
Identifiers:
MedGen: C0221353; Human Phenotype Ontology: HP:0000085
Name:
Optic disc pallor
Identifiers:
MedGen: C0554970; Human Phenotype Ontology: HP:0000543
Name:
Mitral valve prolapse
Identifiers:
MONDO: MONDO:0004910; MedGen: C0026267; Human Phenotype Ontology: HP:0001634
Name:
Aortic root aneurysm
Synonyms:
Aneurysm of aortic root
Identifiers:
MedGen: C1298820; Human Phenotype Ontology: HP:0002616

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854492Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyesnot 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 Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854492.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanicnot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Jan 4, 2025