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NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) AND Malignant tumor of prostate

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Nov 30, 2023
Review status:
no classifications from unflagged records
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:
RCV000488415.6

Allele description [Variation Report for NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)]

NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)

Gene:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
HGVS:
  • NC_000016.10:g.89748744G>A
  • NG_011706.1:g.72914C>T
  • NM_000135.4:c.3263C>TMANE SELECT
  • NM_001286167.3:c.3263C>T
  • NP_000126.2:p.Ser1088Phe
  • NP_001273096.1:p.Ser1088Phe
  • LRG_495t1:c.3263C>T
  • LRG_495:g.72914C>T
  • NC_000016.9:g.89815152G>A
  • NM_000135.2:c.3263C>T
  • O15360:p.Ser1088Phe
Protein change:
S1088F
Links:
UniProtKB: O15360#VAR_017501; dbSNP: rs17233497
NCBI 1000 Genomes Browser:
rs17233497
Molecular consequence:
  • NM_000135.4:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286167.3:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; Human Phenotype Ontology: HP:0012125

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response.

Beltran H, Eng K, Mosquera JM, Sigaras A, Romanel A, Rennert H, Kossai M, Pauli C, Faltas B, Fontugne J, Park K, Banfelder J, Prandi D, Madhukar N, Zhang T, Padilla J, Greco N, McNary TJ, Herrscher E, Wilkes D, MacDonald TY, Xue H, et al.

JAMA Oncol. 2015 Jul;1(4):466-74. doi: 10.1001/jamaoncol.2015.1313.

PubMed [citation]
PMID:
26181256
PMCID:
PMC4505739

A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents.

Wilkes DC, Sailer V, Xue H, Cheng H, Collins CC, Gleave M, Wang Y, Demichelis F, Beltran H, Rubin MA, Rickman DS.

Cold Spring Harb Mol Case Stud. 2017 Sep;3(5). doi:pii: a001487. 10.1101/mcs.a001487. Epub 2017 May 3.

PubMed [citation]
PMID:
28864460
PMCID:
PMC5593159

Details of each submission

From Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, SCV000494044.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494044Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None
Uncertain significance
(Jul 1, 2015) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Last Updated: Jun 17, 2024