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NM_001110556.2(FLNA):c.3876C>T (p.His1292=) AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Nov 14, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000757311.22

Allele description [Variation Report for NM_001110556.2(FLNA):c.3876C>T (p.His1292=)]

NM_001110556.2(FLNA):c.3876C>T (p.His1292=)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
Other names:
p.H1292H:CAC>CAT
HGVS:
  • NC_000023.11:g.154359835G>A
  • NG_011506.2:g.19804C>T
  • NM_001110556.2:c.3876C>TMANE SELECT
  • NM_001456.4:c.3876C>T
  • NP_001104026.1:p.His1292=
  • NP_001447.2:p.His1292=
  • NP_001447.2:p.His1292=
  • LRG_1340t1:c.3876C>T
  • LRG_1340:g.19804C>T
  • LRG_1340p1:p.His1292=
  • NC_000023.10:g.153588203G>A
  • NM_001456.3:c.3876C>T
  • p.His1292His
Links:
dbSNP: rs199917719
NCBI 1000 Genomes Browser:
rs199917719
Molecular consequence:
  • NM_001110556.2:c.3876C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001456.4:c.3876C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000885481ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Benign
(Nov 14, 2023)
germlineclinical testing

Citation Link,

SCV004165103CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(May 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885481.2

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

From CeGaT Center for Human Genetics Tuebingen, SCV004165103.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

FLNA: BP4, BP7, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 3, 2024