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NM_001012426.2(FOXP4):c.815del (p.Leu272fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 10, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000491569.1

Allele description [Variation Report for NM_001012426.2(FOXP4):c.815del (p.Leu272fs)]

NM_001012426.2(FOXP4):c.815del (p.Leu272fs)

Gene:
FOXP4:forkhead box P4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_001012426.2(FOXP4):c.815del (p.Leu272fs)
HGVS:
  • NC_000006.12:g.41587455del
  • NM_001012426.2:c.815delMANE SELECT
  • NM_001012427.2:c.809del
  • NM_138457.3:c.812del
  • NP_001012426.1:p.Leu272fs
  • NP_001012427.1:p.Leu270fs
  • NP_612466.1:p.Leu271fs
  • NC_000006.11:g.41555193del
  • NM_001012426.1:c.815delT
Protein change:
L270fs
Links:
dbSNP: rs1114167294
NCBI 1000 Genomes Browser:
rs1114167294
Molecular consequence:
  • NM_001012426.2:c.815del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001012427.2:c.809del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_138457.3:c.812del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Feeding difficulties
Identifiers:
MedGen: C0232466; Human Phenotype Ontology: HP:0011968
Name:
Laryngeal hypoplasia
Identifiers:
MedGen: C0431527; Human Phenotype Ontology: HP:0008749
Name:
Ventricular septal defect
Identifiers:
MONDO: MONDO:0002070; MedGen: C0018818; OMIM: PS614429; Human Phenotype Ontology: HP:0001629

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282207Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia
no assertion criteria provided
Likely pathogenic
(Jan 10, 2016) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednoresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - The combination of WES, CNV-derived from WES, paralog studies, and GeneMatcher provide potential molecular diagnosis in a cohort from Saudi Arabia, SCV000282207.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024