NM_000918.4(P4HB):c.1200C>G (p.Cys400Trp) AND Cole-Carpenter syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 6, 2020
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:: RCV001260283.2

Allele description [Variation Report for NM_000918.4(P4HB):c.1200C>G (p.Cys400Trp)]

NM_000918.4(P4HB):c.1200C>G (p.Cys400Trp)

Gene:

P4HB:prolyl 4-hydroxylase subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_000918.4(P4HB):c.1200C>G (p.Cys400Trp)

HGVS:

NC_000017.11:g.81845720G>C
NG_042033.1:g.19949C>G
NM_000918.4:c.1200C>GMANE SELECT
NP_000909.2:p.Cys400Trp
NC_000017.10:g.79803596G>C
NM_000918.3:c.1200C>G

Protein change:

C400W

Links:

dbSNP: rs2038725295

NCBI 1000 Genomes Browser:

rs2038725295

Molecular consequence:

NM_000918.4:c.1200C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cole-Carpenter syndrome
Identifiers:: MONDO: MONDO:0016085; MedGen: C1862178; OMIM: PS112240

Recent activity

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adhesin [Escherichia fergusonii ATCC 35469]
adhesin [Escherichia fergusonii ATCC 35469]
gi|218548313|ref|YP_002382104.1|

Protein
RecName: Full=Keratin, type II cytoskeletal 80; AltName: Full=Cytokeratin-80; Sh...
RecName: Full=Keratin, type II cytoskeletal 80; AltName: Full=Cytokeratin-80; Short=CK-80; AltName: Full=Keratin-80; Short=K80; AltName: Full=Type-II keratin Kb20
gi|166218808|sp|Q6KB66.2|K2C80_HUMA

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001244836	Genetics Department, Polish Mother's Memorial Hospital Research Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 6, 2020)	paternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001244836

Genetics Department, Polish Mother's Memorial Hospital Research Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 6, 2020)

paternal

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Polish	paternal	yes	3	not provided	not provided	not provided	not provided	research

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 Genetics Department, Polish Mother's Memorial Hospital Research Institute, SCV001244836.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Polish	3	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: May 7, 2024

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