NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser) AND Hereditary cancer-predisposing syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Sep 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000214206.2

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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000274806Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Sep 28, 2019)
germlineclinical testing

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

Citation Link,

SCV001344321Color Health, Inccriteria provided, single submitter
Likely benign
(May 8, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ambry Genetics, SCV000274806.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.N1102S variant (also known as c.3305A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 3305. The asparagine at codon 1102 is replaced by serine, an amino acid with highly similar properties. This alteration was reported with a minor allele frequency of 0.30% in a Croatian cohort of 167 patients with a personal and/or family history of breast and/or ovarian cancer (Levanat S et al. Gene 2012 May; 498(2):169-76). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Health, Inc, SCV001344321.1

#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: Sep 23, 2021

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