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NM_007294.3(BRCA1):c.1786C>T (p.Leu596Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
May 9, 2018
Accession:
VCV000182136.3
Variation ID:
182136
Description:
single nucleotide variant
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NM_007294.3(BRCA1):c.1786C>T (p.Leu596Phe)

Allele ID
180872
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43093745 (GRCh38) GRCh38 UCSC
17: 41245762 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.43093745G>A
NC_000017.10:g.41245762G>A
NM_007297.4:c.1645C>T NP_009228.2:p.Leu549Phe missense
... more HGVS
Protein change
L596F
Other names
p.L596F:CTC>TTC
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
1000 Genomes Project 0.00040
Links
ClinGen: CA001159
dbSNP: rs80357371
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 9, 2014 RCV000159958.1
Uncertain significance 1 criteria provided, single submitter May 9, 2018 RCV000775174.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7692 7840

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 09, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000210111.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted BRCA1 c.1786C>T at the cDNA level, p.Leu596Phe (L596F) at the protein level, and results in the change of a Leucine to ... (more)
Uncertain significance
(May 09, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000909364.1
Submitted: (Nov 06, 2018)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 24, 2020