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NM_000057.4(BLM):c.4022C>T (p.Ala1341Val) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 2019
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:
RCV001030462.1

Allele description [Variation Report for NM_000057.4(BLM):c.4022C>T (p.Ala1341Val)]

NM_000057.4(BLM):c.4022C>T (p.Ala1341Val)

Gene:
BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val)
HGVS:
  • NC_000015.10:g.90811352C>T
  • NG_007272.1:g.98981C>T
  • NM_000057.4:c.4022C>TMANE SELECT
  • NM_001287246.2:c.4022C>T
  • NM_001287247.2:c.3629C>T
  • NM_001287248.2:c.2897C>T
  • NP_000048.1:p.Ala1341Val
  • NP_001274175.1:p.Ala1341Val
  • NP_001274176.1:p.Ala1210Val
  • NP_001274177.1:p.Ala966Val
  • LRG_20t1:c.4022C>T
  • LRG_20:g.98981C>T
  • NC_000015.9:g.91354582C>T
  • NM_000057.2:c.4022C>T
  • NM_000057.3:c.4022C>T
Protein change:
A1210V
Links:
dbSNP: rs201149857
NCBI 1000 Genomes Browser:
rs201149857
Molecular consequence:
  • NM_000057.4:c.4022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287246.2:c.4022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287247.2:c.3629C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287248.2:c.2897C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001193522Cancer Genomics Group, Japanese Foundation For Cancer Research
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 1, 2019) 		germlineresearch

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

Help

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, SCV001193522.2

#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: Sep 29, 2024