U.S. flag

An official website of the United States government

NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 1, 2024
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:
RCV003396495.7

Allele description [Variation Report for NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)]

NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)

Gene:
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)
HGVS:
  • NC_000015.10:g.89285146T>C
  • NG_011736.1:g.46184T>C
  • NM_001113378.2:c.1749T>CMANE SELECT
  • NM_001376910.1:c.1470T>C
  • NM_001376911.1:c.1749T>C
  • NM_018193.3:c.1749T>C
  • NP_001106849.1:p.Phe583=
  • NP_001363839.1:p.Phe490=
  • NP_001363840.1:p.Phe583=
  • NP_060663.2:p.Phe583=
  • LRG_500t1:c.1749T>C
  • LRG_500:g.46184T>C
  • NC_000015.9:g.89828377T>C
  • NM_001113378.1:c.1749T>C
Links:
dbSNP: rs201037656
NCBI 1000 Genomes Browser:
rs201037656
Molecular consequence:
  • NM_001113378.2:c.1749T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001376910.1:c.1470T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001376911.1:c.1749T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_018193.3:c.1749T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
9

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004137599CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(May 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes9not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004137599.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedclinical testingnot provided

Description

FANCI: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided9not providednot providednot provided

Last Updated: Jul 15, 2024