NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter) AND Ichthyosis vulgaris

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 9, 2022
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:: RCV002468711.4

Allele description [Variation Report for NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter)]

NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter)

Genes:

CCDST:cervical cancer associated DHX9 suppressive transcript [Gene - HGNC]
FLG:filaggrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter)

HGVS:

NC_000001.11:g.152304536G>T
NG_016190.1:g.25668C>A
NM_002016.2:c.10350C>AMANE SELECT
NP_002007.1:p.Tyr3450Ter
NP_002007.1:p.Tyr3450Ter
LRG_1028t1:c.10350C>A
LRG_1028:g.25668C>A
LRG_1028p1:p.Tyr3450Ter
NC_000001.10:g.152277012G>T
NM_002016.1:c.10350C>A

Protein change:

Y3450*

Molecular consequence:

NM_002016.2:c.10350C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Ichthyosis vulgaris
Synonyms:: Ichthyosis simplex; Dominant ichthyosis vulgaris
Identifiers:: MONDO: MONDO:0024304; MedGen: C0079584; OMIM: 146700

Recent activity

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PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein like [Homo sapiens]
PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein like [Homo sapiens]
Gene ID:84457

Gene
84457[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002764704	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Likely pathogenic (Aug 9, 2022)	maternal	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002764704

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Likely pathogenic
(Aug 9, 2022)

maternal

clinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764704.1

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

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

Last Updated: Jun 23, 2024

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