NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) AND Breast-ovarian cancer, familial 1

Clinical significance:Uncertain significance (Last evaluated: Dec 18, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000077500.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser)]

NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser)
HGVS:
  • NC_000017.11:g.43093634G>A
  • NG_005905.2:g.124350C>T
  • NM_007294.3:c.1897C>T
  • NM_007294.4:c.1897C>TMANE SELECT
  • NM_007297.4:c.1756C>T
  • NM_007298.3:c.787+1110C>T
  • NM_007299.4:c.787+1110C>T
  • NM_007300.4:c.1897C>T
  • NP_009225.1:p.Pro633Ser
  • NP_009225.1:p.Pro633Ser
  • NP_009228.2:p.Pro586Ser
  • NP_009231.2:p.Pro633Ser
  • LRG_292t1:c.1897C>T
  • LRG_292:g.124350C>T
  • LRG_292p1:p.Pro633Ser
  • NC_000017.10:g.41245651G>A
  • NR_027676.2:n.2074C>T
  • U14680.1:n.2016C>T
Protein change:
P586S
Links:
dbSNP: rs80356902
NCBI 1000 Genomes Browser:
rs80356902
Molecular consequence:
  • NM_007298.3:c.787+1110C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1110C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.1897C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1897C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1756C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1897C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.2074C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

Condition(s)

Name:
Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000109299Sharing Clinical Reports Project (SCRP)no assertion criteria providedBenign
(Jun 1, 2012)

History

germlineclinical testing

SCV000144238Breast Cancer Information Core (BIC) (BRCA1)no assertion criteria providedUncertain significance
(Oct 29, 2001)
germlineclinical testing

SCV000488059Counsylcriteria provided, single submitter
Uncertain significance
(Dec 18, 2015)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Central/Eastern Europeangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036

Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Tram E, Savas S, Ozcelik H.

PLoS One. 2013 May 21;8(5):e62468. doi: 10.1371/journal.pone.0062468. Print 2013.

PubMed [citation]
PMID:
23704879
PMCID:
PMC3660339
See all PubMed Citations (4)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109299.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144238.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Central/Eastern European1not providednot providedclinical testingnot provided
2Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000488059.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 23, 2021

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