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NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu) AND not provided

Germline classification:
Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:
Jan 25, 2018
Review status:
criteria provided, conflicting classifications
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:
RCV000588961.1

Allele description

NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu)
HGVS:
  • NC_000017.11:g.43093828G>A
  • NG_005905.2:g.124156C>T
  • NM_007294.3:c.1703C>T
  • NM_007297.4:c.1562C>T
  • NM_007298.3:c.787+916C>T
  • NM_007299.4:c.787+916C>T
  • NM_007300.4:c.1703C>T
  • NP_009225.1:p.Pro568Leu
  • NP_009228.2:p.Pro521Leu
  • NP_009231.2:p.Pro568Leu
  • LRG_292t1:c.1703C>T
  • LRG_292:g.124156C>T
  • LRG_292p1:p.Pro568Leu
  • NC_000017.10:g.41245845G>A
  • NR_027676.1:n.1839C>T
  • U14680.1:n.1822C>T
  • p.P568L
Nucleotide change:
1822C>T
Protein change:
P521L
Links:
dbSNP: rs80356910
NCBI 1000 Genomes Browser:
rs80356910
Molecular consequence:
  • NM_007298.3:c.787+916C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+916C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.1703C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1562C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1703C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000698882Integrated Genetics/Laboratory Corporation of America
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(May 9, 2016)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV000888844Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest pathogenicity assessment criteria)
Likely benign
(Jan 25, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.

Palomba G, Loi A, Uras A, Fancello P, Piras G, Gabbas A, Cossu A, Budroni M, Contu A, Tanda F, Farris A, OrrĂ¹ S, Floris C, Pisano M, Lovicu M, Santona MC, Landriscina G, Crisponi L, Palmieri G, Monne M.

BMC Cancer. 2009 Jul 20;9:245. doi: 10.1186/1471-2407-9-245.

PubMed [citation]
PMID:
19619314
PMCID:
PMC2724545

Marsupial BRCA1: conserved regions in mammals and the potential effect of missense changes.

Ramirez CJ, Fleming MA, Potter JD, Ostrander GK, Ostrander EA.

Oncogene. 2004 Mar 4;23(9):1780-8.

PubMed [citation]
PMID:
15001988
See all PubMed Citations (10)

Details of each submission

From Integrated Genetics/Laboratory Corporation of America, SCV000698882.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

Variant summary: The BRCA1 c.1703C>T (p.Pro568Leu) variant involves the alteration of a non-conserved nucleotide. 2/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant has been reported in several HBOC patients without strong evidence for causality and is absent in 121082 control chromosomes. Multiple clinical diagnostic laboratories/reputable databases provided conflicting classifications for this variant ranging from VUS to Benign without evidence to independently evaluate. Additional data needed to evaluate this variant with confidence. Taken together, the variant is classified as a variant of uncertain significance (VUS) until new information becomes available.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888844.1

#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: Nov 7, 2019