NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter) AND Craniofrontonasal syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 20, 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:: RCV001194644.1

Allele description [Variation Report for NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter)]

NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter)

Gene:

EFNB1:ephrin B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter)

HGVS:

NC_000023.11:g.68829800G>A
NG_008887.1:g.5804G>A
NM_004429.5:c.24G>AMANE SELECT
NP_004420.1:p.Trp8Ter
NC_000023.10:g.68049643G>A
NM_004429.4:c.24G>A

Protein change:

W8*

Links:

dbSNP: rs2080439314

NCBI 1000 Genomes Browser:

rs2080439314

Molecular consequence:

NM_004429.5:c.24G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Craniofrontonasal syndrome (CFNS)
Synonyms:: Craniofrontonasal dysplasia; Craniofrontonasal dysostosis
Identifiers:: MONDO: MONDO:0010570; MedGen: C0220767; Orphanet: 1520; OMIM: 304110

Recent activity

Clear Turn Off Turn On

Mgat1 [Pseudomyrmex gracilis]
Mgat1 [Pseudomyrmex gracilis]
Gene ID:109852939

Gene
orf5 [Middle East respiratory syndrome-related coronavirus]
orf5 [Middle East respiratory syndrome-related coronavirus]
Gene ID:14254598

Gene

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
SCV001364309	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 20, 2020)	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001364309

HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 20, 2020)

maternal

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	maternal	yes	1	not provided	not provided	1	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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001364309.1

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

Description

ACMG codes: PVS1, PM2

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine