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NM_007294.3(BRCA1):c.5571G>T (p.Gln1857His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Oct 30, 2018
Accession:
VCV000246518.3
Variation ID:
246518
Description:
single nucleotide variant
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NM_007294.3(BRCA1):c.5571G>T (p.Gln1857His)

Allele ID
245017
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 43045699 (GRCh38) GRCh38 UCSC
17: 41197716 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.43045699C>A
NC_000017.10:g.41197716C>A
NM_007297.4:c.5430G>T NP_009228.2:p.Gln1810His missense
... more HGVS
Protein change
Q1857H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA10584544
dbSNP: rs28897699
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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 23, 2018 RCV000235503.1
Uncertain significance 1 criteria provided, single submitter Oct 30, 2018 RCV000773214.1
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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 23, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000294106.9
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted BRCA1 c.5571G>T at the cDNA level, p.Gln1857His (Q1857H) at the protein level, and results in the change of a Glutamine to ... (more)
Uncertain significance
(Oct 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000906806.1
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 14, 2020