NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln) AND Van Maldergem syndrome 2

Clinical significance:Uncertain significance (Last evaluated: Mar 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001374624.1

Allele description [Variation Report for NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln)]

NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln)

Gene:
FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q28.1
Genomic location:
Preferred name:
NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln)
HGVS:
  • NC_000004.12:g.125320149C>G
  • NG_033865.1:g.8738C>G
  • NM_001291285.3:c.3738C>G
  • NM_001291303.3:c.3738C>GMANE SELECT
  • NM_024582.6:c.3738C>G
  • NP_001278214.1:p.His1246Gln
  • NP_001278232.1:p.His1246Gln
  • NP_078858.4:p.His1246Gln
  • NC_000004.11:g.126241304C>G
  • NM_024582.4:c.3738C>G
Protein change:
H1246Q
Molecular consequence:
  • NM_001291285.3:c.3738C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.3:c.3738C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.6:c.3738C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Van Maldergem syndrome 2 (VMLDS2)
Identifiers:
MONDO: MONDO:0014242; MedGen: C3809875; Orphanet: 314679; OMIM: 615546

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001571470UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill - CSER_NCGENEScriteria provided, single submitter
Uncertain significance
(Mar 1, 2021)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedresearch

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 UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill - CSER_NCGENES, SCV001571470.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

The FAT4 c.3738C>G (p.His1246Gln) missense variant is located in exon 2 and results in a single amino acid substitution from a histidine to a glutamine. To our knowledge, the variant has not been previously reported in affected individuals in the literature. This variant is absent from gnomAD human population database. This variant is classified as a VUS.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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