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NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Jul 7, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000192828.8

Allele description [Variation Report for NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr)]

NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr)

Gene:
FANCM:FA complementation group M [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q21.2
Genomic location:
Preferred name:
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr)
HGVS:
  • NC_000014.9:g.45196487C>T
  • NG_007417.1:g.65555C>T
  • NM_001308133.2:c.5578C>T
  • NM_020937.4:c.5656C>TMANE SELECT
  • NP_001295062.1:p.His1860Tyr
  • NP_065988.1:p.His1886Tyr
  • LRG_502t1:c.5656C>T
  • LRG_502:g.65555C>T
  • NC_000014.8:g.45665690C>T
  • NM_020937.2:c.5656C>T
  • NM_020937.3:c.5656C>T
Protein change:
H1860Y
Links:
dbSNP: rs79343837
NCBI 1000 Genomes Browser:
rs79343837
Molecular consequence:
  • NM_001308133.2:c.5578C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020937.4:c.5656C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000247358Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Oct 1, 2020)
germlineclinical testing

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

SCV002774590Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Benign
(Jul 7, 2021)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot 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

Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene.

Dicks E, Song H, Ramus SJ, Oudenhove EV, Tyrer JP, Intermaggio MP, Kar S, Harrington P, Bowtell DD, Group AS, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Piskorz A, Goranova T, Kent E, Siddiqui N, Paul J, Crawford R, Poblete S, et al.

Oncotarget. 2017 Aug 1;8(31):50930-50940. doi: 10.18632/oncotarget.15871.

PubMed [citation]
PMID:
28881617
PMCID:
PMC5584218
See all PubMed Citations (3)

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000247358.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774590.1

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

Last Updated: Jul 7, 2024