U.S. flag

An official website of the United States government

NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 23, 2016
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:
RCV000609034.4

Allele description [Variation Report for NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro)]

NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro)

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.1331T>C (p.Leu444Pro)
HGVS:
  • NC_000006.12:g.35460566T>C
  • NG_011708.1:g.13206T>C
  • NM_021922.3:c.1331T>CMANE SELECT
  • NP_068741.1:p.Leu444Pro
  • NP_068741.1:p.Leu444Pro
  • LRG_498t1:c.1331T>C
  • LRG_498:g.13206T>C
  • LRG_498p1:p.Leu444Pro
  • NC_000006.11:g.35428343T>C
  • NM_021922.2:c.1331T>C
Protein change:
L444P
Links:
dbSNP: rs745685973
NCBI 1000 Genomes Browser:
rs745685973
Molecular consequence:
  • NM_021922.3:c.1331T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000731356Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Dec 23, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000731356.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The p.Leu444Pro (NM_021922.2 c.1331T>C) variant in FANCE has not been reported i n the literature. This variant has been identified in 0.001% (1/66670) of Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs745685973). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role for Fanconi anemia. Computational prediction tools and conservation analysis suggest that the p.Leu444Pro variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical sign ificance of the p.Leu444Pro variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Sep 29, 2024