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NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 2022
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:
RCV002235507.1

Allele description [Variation Report for NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)]

NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)

Gene:
FANCE:FA complementation group E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)
Other names:
*537L
HGVS:
  • NC_000006.12:g.35466344G>T
  • NG_011708.1:g.18984G>T
  • NM_021922.3:c.1610G>TMANE SELECT
  • NP_068741.1:p.Ter537Leu
  • NP_068741.1:p.Ter537Leu
  • LRG_498t1:c.1610G>T
  • LRG_498:g.18984G>T
  • LRG_498p1:p.Ter537Leu
  • NC_000006.11:g.35434121G>T
  • NM_021922.2:c.1610G>T
Links:
dbSNP: rs139547269
NCBI 1000 Genomes Browser:
rs139547269
Molecular consequence:
  • NM_021922.3:c.1610G>T - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002511864Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 20, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002511864.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: FANCE c.1610G>T (p.X537LeuextX27) changes the termination codon and is predicted to lead to an extended protein with additional amino acids added to the normal C-terminus. FANCE c.1610G>T (p.X537LeuextX27) causes a frameshift which results in an extension of the protein. The variant allele was found at a frequency of 4.8e-05 in 251474 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in FANCE causing Fanconi Anemia (4.8e-05 vs 0.00048), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1610G>T in individuals affected with Fanconi Anemia and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024