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NM_033163.5(FGF8):c.130C>T (p.Arg44Trp) AND Holoprosencephaly sequence

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 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:
RCV000656428.1

Allele description [Variation Report for NM_033163.5(FGF8):c.130C>T (p.Arg44Trp)]

NM_033163.5(FGF8):c.130C>T (p.Arg44Trp)

Gene:
FGF8:fibroblast growth factor 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.32
Genomic location:
Preferred name:
NM_033163.5(FGF8):c.130C>T (p.Arg44Trp)
HGVS:
  • NC_000010.11:g.101775156G>A
  • NG_007151.1:g.5915C>T
  • NM_001206389.2:c.-123-277C>T
  • NM_006119.6:c.70-244C>T
  • NM_033163.5:c.130C>TMANE SELECT
  • NM_033164.4:c.130C>T
  • NM_033165.5:c.70-277C>T
  • NP_149353.1:p.Arg44Trp
  • NP_149354.1:p.Arg44Trp
  • NC_000010.10:g.103534913G>A
  • NM_033163.3:c.130C>T
  • NM_033164.3:c.130C>T
Protein change:
R44W
Links:
dbSNP: rs781205876
NCBI 1000 Genomes Browser:
rs781205876
Molecular consequence:
  • NM_001206389.2:c.-123-277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006119.6:c.70-244C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033165.5:c.70-277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033163.5:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033164.4:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Normal function

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000746219Muenke lab, National Institutes of Health
criteria provided, single submitter

(Submitter's publication)		Benign
(Apr 20, 2018) 		not applicableresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedresearch

Citations

PubMed

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.

Hong S, Hu P, Roessler E, Hu T, Muenke M.

Hum Mol Genet. 2018 Jun 1;27(11):1989-1998. doi: 10.1093/hmg/ddy106.

PubMed [citation]
PMID:
29584859
PMCID:
PMC6251617

Details of each submission

From Muenke lab, National Institutes of Health, SCV000746219.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

Compared to synthetic mRNA for the normal FGF8 transcript, this variant was not statistically different from the normal version. Test included phenotypic and marker changes in micro-injected zebrafish.

Description

Compatible clinical findings, but predicted to be benign on the basis of experimental data and ACMG criteria:BS3/BS1;BP4. Six unrelated detections in ExAC exceeds the birth incidence of Holopresencephaly (1:10,1000 to 1:20,000).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024