NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 24, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000506903.2

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]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000600325Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Jun 7, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001338189Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Feb 24, 2020)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG, Ng CK, De Filippo MR, Zhang Y, Piscuoglio S, Lim RS, Shen R, Norton L, Reis-Filho JS, Weigelt B.

Genome Biol. 2014 Oct 28;15(10):484. doi: 10.1186/s13059-014-0484-1.

PubMed [citation]
PMID:
25348012
PMCID:
PMC4232638

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317
See all PubMed Citations (7)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001338189.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

Variant summary: BRCA1 c.3305A>G (p.Asn1102Ser) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250622 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3305A>G has been reported in the literature in studies involving individuals affected with Hereditary Breast and Ovarian Cancer (example, Judkins_2005, Caux-Moncoutier_2011, Levanat_2012). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 18, 2021

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