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NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 1, 2021
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:
RCV002226662.2

Allele description [Variation Report for NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)]

NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)
HGVS:
  • NC_000023.11:g.154362044G>A
  • NG_011506.2:g.17595C>T
  • NM_001110556.2:c.2761C>TMANE SELECT
  • NM_001456.4:c.2761C>T
  • NP_001104026.1:p.Arg921Ter
  • NP_001447.2:p.Arg921Ter
  • NP_001447.2:p.Arg921Ter
  • LRG_1340t1:c.2761C>T
  • LRG_1340:g.17595C>T
  • LRG_1340p1:p.Arg921Ter
  • NC_000023.10:g.153590412G>A
  • NM_001110556.1:c.2761C>T
  • NM_001456.3:c.2761C>T
  • NP_001447.2:p.Arg921*
Protein change:
R921*
Links:
dbSNP: rs398123614
NCBI 1000 Genomes Browser:
rs398123614
Molecular consequence:
  • NM_001110556.2:c.2761C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001456.4:c.2761C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Abnormality of the face
Identifiers:
MedGen: C4025871; Human Phenotype Ontology: HP:0000271
Name:
Ventral hernia
Identifiers:
MedGen: C0019326; Human Phenotype Ontology: HP:0002933
Name:
Patent ductus arteriosus
Synonyms:
Patency of the ductus arteriosus; Patent ductus arteriosus familial (type)
Identifiers:
MONDO: MONDO:0011827; MedGen: C0013274; OMIM: PS607411; Human Phenotype Ontology: HP:0001643

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002505714Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 1, 2021) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot 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 Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, SCV002505714.2

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

Last Updated: Oct 8, 2024