NM_000143.4(FH):c.553_554insTG (p.Gln185fs) AND Hereditary leiomyomatosis and renal cell cancer

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 8, 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:: RCV000445584.10

Allele description [Variation Report for NM_000143.4(FH):c.553_554insTG (p.Gln185fs)]

NM_000143.4(FH):c.553_554insTG (p.Gln185fs)

Gene:

FH:fumarate hydratase [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_000143.4(FH):c.553_554insTG (p.Gln185fs)

HGVS:

NC_000001.11:g.241511968_241511969insCA
NG_012338.1:g.12786_12787insTG
NM_000143.4:c.553_554insTGMANE SELECT
NP_000134.2:p.Gln185fs
NP_000134.2:p.Gln185fs
LRG_504t1:c.553_554insTG
LRG_504:g.12786_12787insTG
LRG_504p1:p.Gln185fs
NC_000001.10:g.241675268_241675269insCA
NM_000143.3:c.553_554insTG
p.[Gln185Leufs*18]

Protein change:

Q185fs

Links:

dbSNP: rs768182640

NCBI 1000 Genomes Browser:

rs768182640

Molecular consequence:

NM_000143.4:c.553_554insTG - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Hereditary leiomyomatosis and renal cell cancer
Synonyms:: Reed syndrome; Multiple cutaneous and uterine leiomyomatosis; Cutaneous leiomyomata with uterine leiomyomata; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007888; MedGen: C1708350; Orphanet: 523; OMIM: 150800; Human Phenotype Ontology: HP:0007437

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000537233	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Pathogenic (Jan 17, 2017)	germline	clinical testing	DGD_Variant_Analysis_Guidelines.docx, Citation Link,
SCV004018013	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Pathogenic (Feb 8, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000537233

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Pathogenic
(Jan 17, 2017)

germline

clinical testing

DGD_Variant_Analysis_Guidelines.docx,

Citation Link,

SCV004018013

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Pathogenic
(Feb 8, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000537233.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From Myriad Genetics, Inc., SCV004018013.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Oct 20, 2024

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