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NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) AND Intellectual disability

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 5, 2016
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:
RCV000585789.8

Allele description [Variation Report for NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)]

NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)

Gene:
PACS2:phosphofurin acidic cluster sorting protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
Other names:
p.Glu209Lys
HGVS:
  • NC_000014.9:g.105368112G>A
  • NM_001100913.3:c.625G>AMANE SELECT
  • NM_001243127.3:c.424G>A
  • NM_015197.4:c.625G>A
  • NP_001094383.2:p.Glu209Lys
  • NP_001230056.1:p.Glu142Lys
  • NP_056012.2:p.Glu209Lys
  • NC_000014.8:g.105834449G>A
  • NM_001100913.2:c.625G>A
  • NM_001243127.3:c.424G>A
  • NM_015197.4:c.625G>A
Protein change:
E142K; GLU209LYS
Links:
OMIM: 610423.0001; dbSNP: rs1555408401
NCBI 1000 Genomes Browser:
rs1555408401
Molecular consequence:
  • NM_001100913.3:c.625G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243127.3:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015197.4:c.625G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000693433Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 5, 2016) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

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, SCV000693433.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025