NM_001458.5(FLNC):c.7929del (p.Leu2645fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 1, 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:: RCV003311868.10

Allele description

NM_001458.5(FLNC):c.7929del (p.Leu2645fs)

Genes:

FLNC-AS1:FLNC antisense RNA 1 [Gene - HGNC]
FLNC:filamin C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q32.1

Genomic location:

Preferred name:

NM_001458.5(FLNC):c.7929del (p.Leu2645fs)

HGVS:

NC_000007.14:g.128858156del
NG_011807.1:g.32728del
NM_001127487.2:c.7830del
NM_001458.5:c.7929delMANE SELECT
NP_001120959.1:p.Leu2612fs
NP_001449.3:p.Leu2645fs
LRG_870:g.32728del
NC_000007.13:g.128498210del
NC_000007.13:g.128498210delT
NM_001458.4:c.7929delT

Protein change:

L2612fs

Links:

dbSNP: rs1554402015

NCBI 1000 Genomes Browser:

rs1554402015

Molecular consequence:

NM_001127487.2:c.7830del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001458.5:c.7929del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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death domain-associated protein 6 [Xenopus tropicalis]
death domain-associated protein 6 [Xenopus tropicalis]
gi|1785387136|ref|XP_031746862.1|

Protein
Trachemys scripta troostii partial R35 gene intron, specimen voucher 11040
Trachemys scripta troostii partial R35 gene intron, specimen voucher 11040
gi|2126713627|emb|LR735946.1|

Nucleotide
Trachemys scripta troostii partial R35 gene intron, specimen voucher 11044
Trachemys scripta troostii partial R35 gene intron, specimen voucher 11044
gi|2126713635|emb|LR735954.1|

Nucleotide
TRNAM-CAU [Mangifera indica]
TRNAM-CAU [Mangifera indica]
Gene ID:123212636

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004010725	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Jun 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004010725

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Jun 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004010725.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

FLNC: PVS1:Strong, PM2, PS4:Moderate

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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