NM_024582.4(FAT4):c.11618G>A (p.Ser3873Asn) AND Van Maldergem syndrome 2

Clinical significance:Benign (Last evaluated: Aug 10, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000987472.2

Allele description [Variation Report for NM_024582.4(FAT4):c.11618G>A (p.Ser3873Asn)]

NM_024582.4(FAT4):c.11618G>A (p.Ser3873Asn)

Gene:
FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q28.1
Genomic location:
Preferred name:
NM_024582.4(FAT4):c.11618G>A (p.Ser3873Asn)
HGVS:
  • NC_000004.12:g.125452634G>A
  • NG_033865.1:g.141223G>A
  • NM_001291285.1:c.11624G>A
  • NM_001291303.1:c.11624G>A
  • NM_024582.4:c.11618G>A
  • NP_001278214.1:p.Ser3875Asn
  • NP_001278232.1:p.Ser3875Asn
  • NP_078858.4:p.Ser3873Asn
  • NC_000004.11:g.126373789G>A
Protein change:
S3873N
Links:
dbSNP: rs12650153
NCBI 1000 Genomes Browser:
rs12650153
Molecular consequence:
  • NM_001291285.1:c.11624G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291303.1:c.11624G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024582.4:c.11618G>A - 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
SCV001136769Mendelicscriteria provided, single submitter
Benign
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV001933367Nilou-Genome Labcriteria provided, single submitter
Benign
(Aug 10, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

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 Mendelics, SCV001136769.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Nilou-Genome Lab, SCV001933367.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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