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NM_000146.4(FTL):c.-161C>G AND Hereditary hyperferritinemia with congenital cataracts

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 12, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001779413.1

Allele description [Variation Report for NM_000146.4(FTL):c.-161C>G]

NM_000146.4(FTL):c.-161C>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.-161C>G
HGVS:
  • NC_000019.10:g.48965347C>G
  • NG_008152.1:g.5039C>G
  • NM_000146.4:c.-161C>GMANE SELECT
  • NC_000019.9:g.49468604C>G
Links:
dbSNP: rs398124636
NCBI 1000 Genomes Browser:
rs398124636
Molecular consequence:
  • NM_000146.4:c.-161C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
Observations:
1

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002014583Genesis Genoma Lab, Genesis Genoma Lab
no assertion criteria provided
Pathogenic
(Nov 12, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genesis Genoma Lab, Genesis Genoma Lab, SCV002014583.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

This sequence change falls in the non-coding 5'UTR , Iron Responsive Element (IRE) loop of the FTL gene. Nucleotide alterations in the IRE loop abrogate IPR binding and subsequently deregulate FTL synthesis. This sequence change is located in the non-coding 5'UTR of the FTL gene, where a significant number of previously reported variants are found to associate with hyperferritinemia (PMID: 19800271, 7493028, 23421845, 10383191, 22881709, 9226182). This variant has been observed in individuals and families affected with hyperferritinemia and cataract syndrome (PMID: 15234655, 16406710). This variant is also known as Paris +39C>G in the literature. It was detected in a girl with hyperferritinaemia and signs of catarract. For these reasons, this variant has been classified as Pathogenic

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023