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NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val) AND Congenital diaphragmatic hernia

Germline classification:
risk factor (1 submission)
Last evaluated:
Nov 9, 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:
RCV000578084.1

Allele description [Variation Report for NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val)]

NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val)

Gene:
FRAS1:Fraser extracellular matrix complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.21
Genomic location:
Preferred name:
NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val)
HGVS:
  • NC_000004.12:g.78450199A>T
  • NG_015812.1:g.397630A>T
  • NG_015812.2:g.397630A>T
  • NM_025074.7:c.6323A>TMANE SELECT
  • NP_079350.5:p.Asp2108Val
  • NC_000004.11:g.79371353A>T
  • NM_025074.6:c.6323A>T
Protein change:
D2108V
Links:
dbSNP: rs921444831
NCBI 1000 Genomes Browser:
rs921444831
Molecular consequence:
  • NM_025074.7:c.6323A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital diaphragmatic hernia
Synonyms:
DIH; Congenital diaphragmatic defect; Unilateral agenesis of diaphragm; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005711; MeSH: D065630; MedGen: C0235833; Orphanet: 2140; Human Phenotype Ontology: HP:0000776

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000484670Daryl Scott Lab, Baylor College of Medicine
no assertion criteria provided
risk factor
(Nov 9, 2016) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot provided1not providedresearch

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV000484670.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2022