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NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 20, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002478813.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)]

NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)
HGVS:
  • NC_000013.11:g.32337802G>A
  • NG_012772.3:g.27323G>A
  • NM_000059.4:c.3447G>AMANE SELECT
  • NP_000050.2:p.Met1149Ile
  • NP_000050.3:p.Met1149Ile
  • LRG_293t1:c.3447G>A
  • LRG_293:g.27323G>A
  • LRG_293p1:p.Met1149Ile
  • NC_000013.10:g.32911939G>A
  • NM_000059.3:c.3447G>A
Protein change:
M1149I
Links:
dbSNP: rs876660471
NCBI 1000 Genomes Browser:
rs876660471
Molecular consequence:
  • NM_000059.4:c.3447G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002774509Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Aug 20, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

Shindo K, Yu J, Suenaga M, Fesharakizadeh S, Cho C, Macgregor-Das A, Siddiqui A, Witmer PD, Tamura K, Song TJ, Navarro Almario JA, Brant A, Borges M, Ford M, Barkley T, He J, Weiss MJ, Wolfgang CL, Roberts NJ, Hruban RH, Klein AP, Goggins M.

J Clin Oncol. 2017 Oct 20;35(30):3382-3390. doi: 10.1200/JCO.2017.72.3502. Epub 2017 Aug 2.

PubMed [citation]
PMID:
28767289
PMCID:
PMC5648172

Association of Germline Variants in Human DNA Damage Repair Genes and Response to Adjuvant Chemotherapy in Resected Pancreatic Ductal Adenocarcinoma.

Hu H, Zhu Y, Pu N, Burkhart RA, Burns W, Laheru D, Zheng L, He J, Goggins MG, Yu J.

J Am Coll Surg. 2020 Nov;231(5):527-535.e14. doi: 10.1016/j.jamcollsurg.2020.06.019. Epub 2020 Jul 11.

PubMed [citation]
PMID:
32659497
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774509.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024