NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser) AND Hereditary breast and ovarian cancer syndrome

Clinical significance:Uncertain significance (Last evaluated: Oct 5, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001350762.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser)]

NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser)

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.3305A>G (p.Asn1102Ser)
HGVS:
  • NC_000017.11:g.43092226T>C
  • NG_005905.2:g.125758A>G
  • NM_007294.3:c.3305A>G
  • NM_007294.4:c.3305A>GMANE SELECT
  • NM_007297.4:c.3164A>G
  • NM_007298.3:c.788-1194A>G
  • NM_007299.4:c.788-1194A>G
  • NM_007300.4:c.3305A>G
  • NP_009225.1:p.Asn1102Ser
  • NP_009225.1:p.Asn1102Ser
  • NP_009228.2:p.Asn1055Ser
  • NP_009231.2:p.Asn1102Ser
  • LRG_292t1:c.3305A>G
  • LRG_292:g.125758A>G
  • LRG_292p1:p.Asn1102Ser
  • NC_000017.10:g.41244243T>C
  • NM_007294.4:c.3305A>G
  • NR_027676.2:n.3482A>G
  • U14680.1:n.3424A>G
Protein change:
N1055S
Links:
dbSNP: rs80356900
NCBI 1000 Genomes Browser:
rs80356900
Molecular consequence:
  • NM_007298.3:c.788-1194A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1194A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.3:c.3305A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3305A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3305A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.3482A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:
Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001545180Invitaecriteria provided, single submitter
Uncertain significance
(Oct 5, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.

Levanat S, Musani V, Cvok ML, Susac I, Sabol M, Ozretic P, Car D, Eljuga D, Eljuga L, Eljuga D.

Gene. 2012 May 1;498(2):169-76. doi: 10.1016/j.gene.2012.02.010. Epub 2012 Feb 17.

PubMed [citation]
PMID:
22366370

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

Caux-Moncoutier V, Castéra L, Tirapo C, Michaux D, Rémon MA, Laugé A, Rouleau E, De Pauw A, Buecher B, Gauthier-Villars M, Viovy JL, Stoppa-Lyonnet D, Houdayer C.

Hum Mutat. 2011 Mar;32(3):325-34. doi: 10.1002/humu.21414. Epub 2011 Feb 8.

PubMed [citation]
PMID:
21120943
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001545180.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces asparagine with serine at codon 1102 of the BRCA1 protein (p.Asn1102Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs80356900, ExAC 0.001%). This variant has been reported in families with breast and/or ovarian cancer (PMID: 22366370, 21120943). ClinVar contains an entry for this variant (Variation ID: 54831). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 18, 2021

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