NM_007294.4(BRCA1):c.1510del (p.Arg504fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jul 5, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000130024.3

Allele description

NM_007294.4(BRCA1):c.1510del (p.Arg504fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.1510del (p.Arg504fs)
HGVS:
  • NC_000017.11:g.43094021del
  • NG_005905.2:g.123963del
  • NM_007294.4:c.1510del
  • NM_007297.4:c.1369del
  • NM_007298.3:c.787+723del
  • NM_007299.4:c.787+723del
  • NM_007300.4:c.1510del
  • NP_009225.1:p.Arg504fs
  • NP_009228.2:p.Arg457fs
  • NP_009231.2:p.Arg504fs
  • LRG_292:g.123963del
  • NC_000017.10:g.41246038del
  • NC_000017.10:g.41246038delG
  • NM_007294.3:c.1510delC
  • NR_027676.2:n.1687del
  • U14680.1:n.1629delC
  • p.R504VFS*28
Nucleotide change:
1629delC
Protein change:
R457fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 1629&base_change=del C; dbSNP: rs80357908
NCBI 1000 Genomes Browser:
rs80357908
Molecular consequence:
  • NM_007294.4:c.1510del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.1369del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.1510del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.3:c.787+723del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+723del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.1687del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000184850Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jan 9, 2014)
germlineclinical testing

Citation Link,

SCV000688341Colorcriteria provided, single submitter
Pathogenic
(Jul 5, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not 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

Details of each submission

From Ambry Genetics, SCV000184850.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color, SCV000688341.1

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

Last Updated: Jun 13, 2020

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