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NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 20, 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:
RCV001266056.4

Allele description [Variation Report for NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)]

NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)

Gene:
PHIP:pleckstrin homology domain interacting protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q14.1
Genomic location:
Preferred name:
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)
HGVS:
  • NC_000006.12:g.79060680G>A
  • NG_051932.1:g.22619C>T
  • NM_017934.6:c.328C>T
  • NM_017934.7:c.328C>TMANE SELECT
  • NP_060404.4:p.Arg110Cys
  • NC_000006.11:g.79770397G>A
  • NC_000006.11:g.79770397G>A
  • NM_017934.5:c.328C>T
Protein change:
R110C
Links:
dbSNP: rs768324201
NCBI 1000 Genomes Browser:
rs768324201
Molecular consequence:
  • NM_017934.7:c.328C>T - 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
SCV001444228Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Likely pathogenic
(Mar 20, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing
Caucasian/Hispanic/Puerto Rican/German/Englishgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C.

Nat Neurosci. 2016 Sep;19(9):1194-6. doi: 10.1038/nn.4352. Epub 2016 Aug 1. Review.

PubMed [citation]
PMID:
27479843

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, et al.

Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6.

PubMed [citation]
PMID:
28263302
PMCID:
PMC5501701
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001444228.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
2Caucasian/Hispanic/Puerto Rican/German/English1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024