NM_000146.4(FTL):c.-173C>G AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 29, 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:: RCV003769260.2

Allele description [Variation Report for NM_000146.4(FTL):c.-173C>G]

NM_000146.4(FTL):c.-173C>G

Gene:

FTL:ferritin light chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_000146.4(FTL):c.-173C>G

HGVS:

NC_000019.10:g.48965335C>G
NG_008152.1:g.5027C>G
NM_000146.4:c.-173C>GMANE SELECT
NC_000019.9:g.49468592C>G
NC_000019.9:g.49468592C>G
NM_000146.3:c.-173C>G

Links:

dbSNP: rs1053572388

NCBI 1000 Genomes Browser:

rs1053572388

Molecular consequence:

NM_000146.4:c.-173C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:: Hereditary hyperferritinemia with congenital cataracts
Synonyms:: Hyperferritinemia cataract syndrome; Hereditary hyperferritinemia cataract syndrome; Bonneau-Beaumont syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010952; MedGen: C1833213; Orphanet: 163; OMIM: 600886

Name:: Neuroferritinopathy (NBIA3)
Synonyms:: BASAL GANGLIA DISEASE, ADULT-ONSET; Neurodegeneration with brain iron accumulation 3
Identifiers:: MONDO: MONDO:0011638; MedGen: C1853578; Orphanet: 157846; OMIM: 606159

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RecName: Full=Ubiquitin carboxyl-terminal hydrolase 10; AltName: Full=Deubiquiti...
RecName: Full=Ubiquitin carboxyl-terminal hydrolase 10; AltName: Full=Deubiquitinating enzyme 10; AltName: Full=Ubiquitin thioesterase 10; AltName: Full=Ubiquitin-specific-processing protease 10
gi|2501458|sp|Q14694.2|UBP10_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004582285	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 29, 2023)	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

SCV004582285

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 29, 2023)

germline

clinical testing

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

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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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004582285.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant occurs in a non-coding region of the FTL gene. It does not change the encoded amino acid sequence of the FTL protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FTL-related conditions. ClinVar contains an entry for this variant (Variation ID: 894090). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

#	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: Sep 29, 2024

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