NM_000057.4(BLM):c.320dup (p.Leu107fs) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Likely pathogenic (Last evaluated: May 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001030680.1

Allele description [Variation Report for NM_000057.4(BLM):c.320dup (p.Leu107fs)]

NM_000057.4(BLM):c.320dup (p.Leu107fs)

Gene:
BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_000057.4(BLM):c.320dup (p.Leu107fs)
HGVS:
  • NC_000015.10:g.90749588dup
  • NG_007272.1:g.37217dup
  • NM_000057.4:c.320dupMANE SELECT
  • NM_001287246.2:c.320dup
  • NM_001287247.2:c.320dup
  • NM_001287248.2:c.-972dup
  • NP_000048.1:p.Leu107fs
  • NP_001274175.1:p.Leu107fs
  • NP_001274176.1:p.Leu107fs
  • LRG_20:g.37217dup
  • NC_000015.9:g.91292816_91292817insT
  • NC_000015.9:g.91292818dup
  • NM_000057.3:c.320dupT
Protein change:
L107fs
Links:
dbSNP: rs781221411
NCBI 1000 Genomes Browser:
rs781221411
Molecular consequence:
  • NM_001287248.2:c.-972dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000057.4:c.320dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287246.2:c.320dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287247.2:c.320dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001193508Cancer Genomics Group,Japanese Foundation For Cancer Researchcriteria provided, single submitter
Likely pathogenic
(May 1, 2019)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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

Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.

Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, et al.

NPJ Breast Cancer. 2020;6:25. doi: 10.1038/s41523-020-0163-1.

PubMed [citation]
PMID:
32566746
PMCID:
PMC7293299

Details of each submission

From Cancer Genomics Group,Japanese Foundation For Cancer Research, SCV001193508.2

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

Last Updated: Nov 27, 2021

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