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NM_000791.4(DHFR):c.-437GGGGCGCTG[6] AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 2021
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:
RCV002256832.2

Allele description [Variation Report for NM_000791.4(DHFR):c.-437GGGGCGCTG[6]]

NM_000791.4(DHFR):c.-437GGGGCGCTG[6]

Genes:
DHFR:dihydrofolate reductase [Gene - OMIM - HGNC]
MSH3:mutS homolog 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000791.4(DHFR):c.-437GGGGCGCTG[6]
HGVS:
  • NC_000005.10:g.80654913GCCCCCAGC[6]
  • NG_016607.2:g.5439GCCCCCAGC[6]
  • NG_023304.1:g.5056GGGGCGCTG[6]
  • NG_105205.1:g.509GCCCCCAGC[6]
  • NG_105205.2:g.536GCCCCCAGC[6]
  • NM_000791.4:c.-437GGGGCGCTG[6]MANE SELECT
  • NM_001290354.2:c.-543GGGGCGCTG[6]
  • NM_001290357.2:c.-437GGGGCGCTG[6]
  • NM_002439.5:c.186GCCCCCAGC[6]MANE SELECT
  • NP_002430.3:p.Pro69_Ala70insProAlaProProAlaProProAlaProProAlaPro
  • NC_000005.9:g.79950732GCCCCCAGC[6]
  • NM_000791.4:c.-420_-419insGGGGCGCTGGGGGCGCTGGGGGCGCTGGGGGCGCTGMANE SELECT
  • NM_002439.4:c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGC
  • NR_110936.2:n.58GGGGCGCTG[6]
Links:
dbSNP: rs60484572
NCBI 1000 Genomes Browser:
rs60484572
Molecular consequence:
  • NM_000791.4:c.-437GGGGCGCTG[6] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001290354.2:c.-543GGGGCGCTG[6] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001290357.2:c.-437GGGGCGCTG[6] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_002439.5:c.186GCCCCCAGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NR_110936.2:n.58GGGGCGCTG[6] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002536026Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Jul 22, 2021) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002536026.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024