NM_199242.3(UNC13D):c.498del (p.Glu167fs) AND Familial hemophagocytic lymphohistiocytosis 3

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 20, 2019
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:: RCV000991403.1

Allele description [Variation Report for NM_199242.3(UNC13D):c.498del (p.Glu167fs)]

NM_199242.3(UNC13D):c.498del (p.Glu167fs)

Gene:

UNC13D:unc-13 homolog D [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_199242.3(UNC13D):c.498del (p.Glu167fs)

HGVS:

NC_000017.11:g.75842507del
NG_007266.1:g.7214del
NM_199242.3:c.498delMANE SELECT
NP_954712.1:p.Glu167fs
LRG_122:g.7214del
NC_000017.10:g.73838588del

Protein change:

E167fs

Links:

dbSNP: rs1599414759

NCBI 1000 Genomes Browser:

rs1599414759

Molecular consequence:

NM_199242.3:c.498del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Familial hemophagocytic lymphohistiocytosis 3 (FHL3)
Identifiers:: MONDO: MONDO:0012146; MedGen: C1837174; Orphanet: 540; OMIM: 608898

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001142798	Hadassah Hebrew University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 20, 2019)	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

SCV001142798

Hadassah Hebrew University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 20, 2019)

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	yes	not provided	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 Hadassah Hebrew University Medical Center, SCV001142798.2

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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