NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala) AND not provided

Clinical significance:Likely benign (Last evaluated: Mar 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001283908.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala)]

NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala)

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.5416C>G (p.Pro1806Ala)
HGVS:
  • NC_000017.11:g.43047694G>C
  • NG_005905.2:g.170290C>G
  • NM_007294.3:c.5416C>G
  • NM_007294.4:c.5416C>GMANE SELECT
  • NM_007297.4:c.5275C>G
  • NM_007298.3:c.2104C>G
  • NM_007299.4:c.2030C>G
  • NM_007300.4:c.5479C>G
  • NP_009225.1:p.Pro1806Ala
  • NP_009225.1:p.Pro1806Ala
  • NP_009228.2:p.Pro1759Ala
  • NP_009229.2:p.Pro702Ala
  • NP_009230.2:p.Pro677Arg
  • NP_009231.2:p.Pro1827Ala
  • LRG_292t1:c.5416C>G
  • LRG_292:g.170290C>G
  • LRG_292p1:p.Pro1806Ala
  • NC_000017.10:g.41199711G>C
  • NR_027676.2:n.5593C>G
  • U14680.1:n.5535C>G
  • p.P1806A
Protein change:
P1759A
Links:
dbSNP: rs80357241
NCBI 1000 Genomes Browser:
rs80357241
Molecular consequence:
  • NM_007294.3:c.5416C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5416C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5275C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.3:c.2104C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.2030C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5479C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5593C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001469396Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(Mar 13, 2020)
unknownclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, Sutphen R, Pickard-Brzosowicz JL, Nathanson KL, Sali A, Goldgar D, Couch FJ, Radice P, Monteiro AN.

Cancer Res. 2007 Feb 15;67(4):1494-501.

PubMed [citation]
PMID:
17308087
PMCID:
PMC2936786

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, Yeung T, Foo D, Hau DD, Hui B, Monteiro AN, Glover JN.

Cancer Res. 2010 Jun 15;70(12):4880-90. doi: 10.1158/0008-5472.CAN-09-4563. Epub 2010 Jun 1.

PubMed [citation]
PMID:
20516115
PMCID:
PMC3040717
See all PubMed Citations (8)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469396.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

Support Center