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NM_000059.4(BRCA2):c.3646T>C (p.Phe1216Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 2023
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:
RCV003293412.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.3646T>C (p.Phe1216Leu)]

NM_000059.4(BRCA2):c.3646T>C (p.Phe1216Leu)

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.3646T>C (p.Phe1216Leu)
HGVS:
  • NC_000013.11:g.32338001T>C
  • NG_012772.3:g.27522T>C
  • NM_000059.4:c.3646T>CMANE SELECT
  • NM_001406719.1:c.3646T>C
  • NM_001406720.1:c.3646T>C
  • NM_001406721.1:c.1909+4614T>C
  • NM_001406722.1:c.425-6557T>C
  • NP_000050.2:p.Phe1216Leu
  • NP_000050.3:p.Phe1216Leu
  • NP_001393648.1:p.Phe1216Leu
  • NP_001393649.1:p.Phe1216Leu
  • LRG_293t1:c.3646T>C
  • LRG_293:g.27522T>C
  • LRG_293p1:p.Phe1216Leu
  • NC_000013.10:g.32912138T>C
  • NM_000059.3:c.3646T>C
  • NR_176251.1:n.3845T>C
Protein change:
F1216L
Molecular consequence:
  • NM_001406721.1:c.1909+4614T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406722.1:c.425-6557T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000059.4:c.3646T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406719.1:c.3646T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406720.1:c.3646T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176251.1:n.3845T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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  • D014042 (1)
    MeSH
  • Tolazamide
    Tolazamide
    A sulphonylurea hypoglycemic agent with actions and uses similar to those of CHLORPROPAMIDE.<br/>Year introduced: 1973(1964)
    MeSH
  • GBE1 [Lynx rufus]
    GBE1 [Lynx rufus]
    Gene ID:124526406
    Gene

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004005417Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004005417.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.F1216L variant (also known as c.3646T>C), located in coding exon 10 of the BRCA2 gene, results from a T to C substitution at nucleotide position 3646. The phenylalanine at codon 1216 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 1, 2024