U.S. flag

An official website of the United States government

NM_020937.4(FANCM):c.491A>C (p.His164Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 25, 2020
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:
RCV002256303.1

Allele description [Variation Report for NM_020937.4(FANCM):c.491A>C (p.His164Pro)]

NM_020937.4(FANCM):c.491A>C (p.His164Pro)

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.491A>C (p.His164Pro)
HGVS:
  • NC_000014.9:g.45136522A>C
  • NG_007417.1:g.5590A>C
  • NM_001308133.2:c.491A>C
  • NM_001308134.2:c.491A>C
  • NM_020937.4:c.491A>CMANE SELECT
  • NP_001295062.1:p.His164Pro
  • NP_001295063.1:p.His164Pro
  • NP_065988.1:p.His164Pro
  • LRG_502t1:c.491A>C
  • LRG_502:g.5590A>C
  • NC_000014.8:g.45605725A>C
  • NM_020937.2:c.491A>C
  • NM_020937.3:c.491A>C
Protein change:
H164P
Links:
dbSNP: rs144278051
NCBI 1000 Genomes Browser:
rs144278051
Molecular consequence:
  • NM_001308133.2:c.491A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308134.2:c.491A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020937.4:c.491A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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
SCV002529865Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)
Likely benign
(Nov 25, 2020)
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.

Lin FY, Bergstrom K, Person R, Bavle A, Ballester LY, Scollon S, Raesz-Martinez R, Jea A, Birchansky S, Wheeler DA, Berg SL, Chintagumpala MM, Adesina AM, Eng C, Roy A, Plon SE, Parsons DW.

Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a001057. doi: 10.1101/mcs.a001057.

PubMed [citation]
PMID:
27626068
PMCID:
PMC5002928

Details of each submission

From Sema4, Sema4, SCV002529865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024