NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 26, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000656639.3

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]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000778766Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedUncertain significance
(Feb 26, 2018)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000778766.1

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

Last Updated: May 23, 2021

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