NM_004750.5(CRLF1):c.713dup (p.Pro239fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 14, 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:: RCV002515469.2

Allele description [Variation Report for NM_004750.5(CRLF1):c.713dup (p.Pro239fs)]

NM_004750.5(CRLF1):c.713dup (p.Pro239fs)

Gene:

CRLF1:cytokine receptor like factor 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

19p13.11

Genomic location:

Preferred name:

NM_004750.5(CRLF1):c.713dup (p.Pro239fs)

HGVS:

NC_000019.10:g.18597039dup
NG_013370.1:g.14817dup
NG_057411.1:g.421dup
NM_004750.5:c.713dupMANE SELECT
NP_004741.1:p.Pro239fs
NC_000019.9:g.18707843_18707844insG
NC_000019.9:g.18707849dup
NM_004750.4:c.713dupC
NM_004750.5:c.713dupCMANE SELECT

Protein change:

P239fs

Links:

OMIM: 604237.0006; dbSNP: rs768727082

NCBI 1000 Genomes Browser:

rs768727082

Molecular consequence:

NM_004750.5:c.713dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV003443140	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 14, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 17436251, 24488861, 27976805, 17436252, 19012339, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003443140

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 14, 2023)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2007 May;80(5):966-70. Epub 2007 Mar 13.

PubMed [citation]

PMID:: 17436251
PMCID:: PMC1852726

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Piras R, Chiappe F, Torraca IL, Buers I, Usala G, Angius A, Akin MA, Basel-Vanagaite L, Benedicenti F, Chiodin E, El Assy O, Feingold-Zadok M, Guibert J, Kamien B, Kasapkara CS, Kiliç E, Boduroğlu K, Kurtoglu S, Manzur AY, Onal EE, Paderi E, Roche CH, et al.

Hum Mutat. 2014 Apr;35(4):424-33. doi: 10.1002/humu.22522. Epub 2014 Mar 6.

PubMed [citation]

PMID:: 24488861

See all PubMed Citations (6)

Details of each submission

From Invitae, SCV003443140.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 216913). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive cold-induced sweating syndrome (PMID: 17436251, 24488861, 27976805). This variant is present in population databases (rs768727082, gnomAD 0.05%). This sequence change creates a premature translational stop signal (p.Pro239Alafs*91) in the CRLF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRLF1 are known to be pathogenic (PMID: 17436252, 19012339).

#	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		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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