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:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444228	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Mar 20, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 27479843, 28263302, 29209020 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444228

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Mar 20, 2018)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing
Caucasian/Hispanic/Puerto Rican/German/English	germline	yes	1	not provided	not provided	1	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)
2	Caucasian/Hispanic/Puerto Rican/German/English	1	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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