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NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 20, 2017
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:
RCV000515122.4

Allele description [Variation Report for NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)]

NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)

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.1211T>C (p.Ile404Thr)
HGVS:
  • NC_000015.10:g.89276809T>C
  • NG_011736.1:g.37847T>C
  • NM_001113378.2:c.1211T>CMANE SELECT
  • NM_001376910.1:c.932T>C
  • NM_001376911.1:c.1211T>C
  • NM_018193.3:c.1211T>C
  • NP_001106849.1:p.Ile404Thr
  • NP_001106849.1:p.Ile404Thr
  • NP_001363839.1:p.Ile311Thr
  • NP_001363840.1:p.Ile404Thr
  • NP_060663.2:p.Ile404Thr
  • LRG_500t1:c.1211T>C
  • LRG_500:g.37847T>C
  • LRG_500p1:p.Ile404Thr
  • NC_000015.9:g.89820040T>C
  • NM_001113378.1:c.1211T>C
Protein change:
I311T
Links:
dbSNP: rs79080874
NCBI 1000 Genomes Browser:
rs79080874
Molecular consequence:
  • NM_001113378.2:c.1211T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376910.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376911.1:c.1211T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018193.3:c.1211T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000610536Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Mar 20, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000610536.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.000647not providednot provided

Last Updated: Mar 5, 2024