NM_001378074.1(BOC):c.1670G>A (p.Gly557Glu) AND Holoprosencephaly sequence

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 10, 2017
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:: RCV000627087.1

Allele description [Variation Report for NM_001378074.1(BOC):c.1670G>A (p.Gly557Glu)]

NM_001378074.1(BOC):c.1670G>A (p.Gly557Glu)

Gene:

BOC:BOC cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.2

Genomic location:

Preferred name:

NM_001378074.1(BOC):c.1670G>A (p.Gly557Glu)

HGVS:

NC_000003.12:g.113278222G>A
NM_001301861.2:c.1670G>A
NM_001378073.1:c.1670G>A
NM_001378074.1:c.1670G>AMANE SELECT
NM_001378075.1:c.1667G>A
NM_001387919.1:c.1670G>A
NM_001387920.1:c.1667G>A
NM_001387921.1:c.1667G>A
NM_001387924.1:c.1397G>A
NM_001387925.1:c.1667G>A
NM_001387926.1:c.1670G>A
NM_001387927.1:c.1667G>A
NM_001387928.1:c.1667G>A
NM_033254.4:c.1667G>A
NP_001288790.1:p.Gly557Glu
NP_001365002.1:p.Gly557Glu
NP_001365003.1:p.Gly557Glu
NP_001365004.1:p.Gly556Glu
NP_001374848.1:p.Gly557Glu
NP_001374849.1:p.Gly556Glu
NP_001374850.1:p.Gly556Glu
NP_001374853.1:p.Gly466Glu
NP_001374854.1:p.Gly556Glu
NP_001374855.1:p.Gly557Glu
NP_001374856.1:p.Gly556Glu
NP_001374857.1:p.Gly556Glu
NP_150279.1:p.Gly556Glu
NC_000003.11:g.112997069G>A
NM_033254.2:c.1667G>A
NR_170866.1:n.2246G>A

Protein change:

G466E

Links:

dbSNP: rs1553745274

NCBI 1000 Genomes Browser:

rs1553745274

Molecular consequence:

NM_001301861.2:c.1670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378073.1:c.1670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378074.1:c.1670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001378075.1:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001387919.1:c.1670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001387920.1:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001387921.1:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001387924.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001387925.1:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001387926.1:c.1670G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001387927.1:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001387928.1:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033254.4:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_170866.1:n.2246G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

protein gain of function [Variation Ontology: 0040]

Condition(s)

Name:: Holoprosencephaly sequence (HPE)
Synonyms:: ARHINENCEPHALY; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0016296; MedGen: C0079541; Orphanet: 2162; OMIM: PS236100; Human Phenotype Ontology: HP:0001360

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692589	Muenke lab, National Institutes of Health	criteria provided, single submitter (Submitter's publication)	Uncertain significance (May 10, 2017)	not applicable	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692589

Muenke lab, National Institutes of Health

criteria provided, single submitter

(Submitter's publication)

Uncertain significance
(May 10, 2017)

not applicable

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
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

BOC is a modifier gene in holoprosencephaly.

Hong M, Srivastava K, Kim S, Allen BL, Leahy DJ, Hu P, Roessler E, Krauss RS, Muenke M.

Hum Mutat. 2017 Nov;38(11):1464-1470. doi: 10.1002/humu.23286. Epub 2017 Jul 21.

PubMed [citation]

PMID:: 28677295
PMCID:: PMC5673120

Details of each submission

From Muenke lab, National Institutes of Health, SCV000692589.1

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

Description

Missense variant alters the function of the human protein in transfected mouse cells genetically null for the mouse ortholog. Compared to the normal human gene, this variant affects pathway activity by increasing signaling strength of target genes. Interpreted as a gain-of-function variant.

Description

Increased binding of Sonic hedgehog in transfected mouse cells compared to the normal human gene. Hedgehog signaling strength depends on receptor binding and is implicated in holoprosencephaly and other conditions of midline signaling.

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

Last Updated: Jul 27, 2022

ClinVar

Relating variation to medicine