NM_144997.7(FLCN):c.1232_1233dup (p.Ala412fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 15, 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:: RCV003481335.1

Allele description [Variation Report for NM_144997.7(FLCN):c.1232_1233dup (p.Ala412fs)]

NM_144997.7(FLCN):c.1232_1233dup (p.Ala412fs)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.1232_1233dup (p.Ala412fs)

Other names:

p.Ala412Argfs*57

HGVS:

NC_000017.11:g.17216448_17216449dup
NG_008001.2:g.25741_25742dup
NM_001353229.2:c.1286_1287dup
NM_001353230.2:c.1232_1233dup
NM_001353231.2:c.1232_1233dup
NM_144997.7:c.1232_1233dupMANE SELECT
NP_001340158.1:p.Ala430fs
NP_001340159.1:p.Ala412fs
NP_001340160.1:p.Ala412fs
NP_659434.2:p.Ala412Argfs
NP_659434.2:p.Ala412fs
LRG_325t1:c.1231_1232dup
LRG_325:g.25741_25742dup
LRG_325p1:p.Ala412Argfs
NC_000017.10:g.17119760_17119761insCT
NC_000017.10:g.17119762_17119763dup
NM_144997.5:c.1231_1232dup

Protein change:

A412fs

Molecular consequence:

NM_001353229.2:c.1286_1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353230.2:c.1232_1233dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353231.2:c.1232_1233dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144997.7:c.1232_1233dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004226876	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 15, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004226876

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 15, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical 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 Mayo Clinic Laboratories, Mayo Clinic, SCV004226876.1

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

Description

PM2, PVS1

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

Last Updated: Sep 29, 2024

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