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NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 16, 2018
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:
RCV001265915.8

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]
Observations:
2

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001444087Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Apr 16, 2018) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African Americangermlineyes1not providednot provided1not providedclinical testing
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

Lelieveld SH, Wiel L, Venselaar H, Pfundt R, Vriend G, Veltman JA, Brunner HG, Vissers LELM, Gilissen C.

Am J Hum Genet. 2017 Sep 7;101(3):478-484. doi: 10.1016/j.ajhg.2017.08.004. Epub 2017 Aug 31.

PubMed [citation]
PMID:
28867141
PMCID:
PMC5591029

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, et al.

Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19.

PubMed [citation]
PMID:
28628100
PMCID:
PMC5539915
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001444087.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American1not providednot providedclinical testing PubMed (3)
2Caucasian1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024