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NM_007294.4(BRCA1):c.5564del (p.Ile1855fs)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Apr 17, 2018
Accession:
VCV000496397.2
Variation ID:
496397
Description:
1bp deletion
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NM_007294.4(BRCA1):c.5564del (p.Ile1855fs)

Allele ID
487840
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43045706 (GRCh38) GRCh38 UCSC
17: 41197723 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41197723del
NC_000017.11:g.43045706del
NM_007294.4:c.5564del MANE Select NP_009225.1:p.Ile1855fs frameshift
... more HGVS
Protein change
I1808fs, I1855fs, I1876fs, I751fs
Other names
-
Canonical SPDI
NC_000017.11:43045705:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658684035
dbSNP: rs1555574355
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Apr 17, 2018 RCV000589978.1
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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
11983 12150

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 02, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699272.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The c.5564delT variant creates a lost stop codon and creates a stop codon 67 amino acids downstream, resulting in an elongated protein. The … (more)
Likely pathogenic
(Apr 17, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000779243.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This deletion of one nucleotide in BRCA1 is denoted c.5564delT at the cDNA level and p.Ile1855AsnfsX67 (I1855NfsX67) at the protein level. The normal sequence, with … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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

Text-mined citations for rs1555574355...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021