NM_000785.4(CYP27B1):c.386+1G>A AND Vitamin D-dependent rickets, type 1A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2002
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000001738.3

Allele description [Variation Report for NM_000785.4(CYP27B1):c.386+1G>A]

NM_000785.4(CYP27B1):c.386+1G>A

Gene:

CYP27B1:cytochrome P450 family 27 subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q14.1

Genomic location:

Preferred name:

NM_000785.4(CYP27B1):c.386+1G>A

HGVS:

NC_000012.12:g.57766006C>T
NG_007076.1:g.6188G>A
NM_000785.4:c.386+1G>AMANE SELECT
NC_000012.11:g.58159789C>T
NM_000785.3:c.386+1G>A

Note:

ClinGen staff contributed the HGVS expression for this variant.

Nucleotide change:

IVS2, G-A, +1

Links:

OMIM: 609506.0014; dbSNP: rs770204470

NCBI 1000 Genomes Browser:

rs770204470

Molecular consequence:

NM_000785.4:c.386+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Vitamin D-dependent rickets, type 1A
Synonyms:: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; PDDR IA; PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA
Identifiers:: MONDO: MONDO:0020723; MedGen: CN283242; OMIM: 264700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021894	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021894

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2002)

germline

literature only

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.

Wang X, Zhang MY, Miller WL, Portale AA.

J Clin Endocrinol Metab. 2002 Jun;87(6):2424-30.

PubMed [citation]

PMID:: 12050193

Details of each submission

From OMIM, SCV000021894.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Pakistani boy with vitamin D-dependent rickets (264700) who was born of consanguineous parents, Wang et al. (2002) identified a homozygous G-to-A transition in the first nucleotide of intron 2 (IVS2+1G-A). The mutation disrupted the first donor site, which the authors predicted would result in retention of intron 2. Minigene analysis showed that retention of intron 2 caused a shift in the reading frame and premature termination of translation, yielding a peptide devoid of enzymatic activity.

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

Last Updated: Jun 10, 2023

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