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NM_001110556.2(FLNA):c.4318del (p.Val1440fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 18, 2023
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:
RCV003318283.1

Allele description [Variation Report for NM_001110556.2(FLNA):c.4318del (p.Val1440fs)]

NM_001110556.2(FLNA):c.4318del (p.Val1440fs)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.4318del (p.Val1440fs)
HGVS:
  • NC_000023.11:g.154359141del
  • NG_011506.2:g.20499del
  • NM_001110556.2:c.4318delMANE SELECT
  • NM_001456.4:c.4318del
  • NP_001104026.1:p.Val1440fs
  • NP_001447.2:p.Val1440fs
  • LRG_1340t1:c.4318del
  • LRG_1340:g.20499del
  • LRG_1340p1:p.Val1440fs
  • NC_000023.10:g.153587509del
  • NM_001456.3:c.4318del
Protein change:
V1440fs
Molecular consequence:
  • NM_001110556.2:c.4318del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001456.4:c.4318del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004021858GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jan 18, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV004021858.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023